Download GENE

GENE/01(O).DOWN SYNDROME, A CLINICAL BIOLOGICAL AND GENETIC
PROFILE
K R Lahiri; Satish
Department of pediatrics, Seth G S Medical College and KEM Hospital Mumbai 400012
Down syndrome (DS) is diagnosed clinically by its characteristic features and associated systemic
malformation and there is a wide variation amongst individuals in the clinical manifestations. Aims
and Objectives: This study was done to analyse the demographic and physical features, the
distribution of cases in children with Dwon syndrome; with respect to maternal age, associated
systemic malformations, occurrence of hematological and thyroid disorders and the pattern of
cytogenetic abnormalities. Methodology: It was a retrospective study performed in a tertiary care
centre involving random 114 cases of down syndrome confirmed by karyotype. Results: Of the total
(n=114) cases, 68 were males and 46 females, average age of presentation was 18.8 months, and
commonest age distribution of mothers was between 20-30 years (55.2%) followed by 30-40 yrs
(41.2%). Most common cause for referral was dysmorphic features; followed by congenital heartdisease and delayed milestones. Hypotonia, mongoloid slant, flat face and epicanthal fold were the
most common minor malformations. Non-disjunction was the most common (93%) cytogenetic
abnormality. Most common major malformation was congenital heart disease (59%), followed by
thyroid dysfunction (14.9%) and Gastro intestinal anomalies (3.5%). Endocardial cushion defect
was seen as most common congenital heart disease followed by VSD and PDA. All physical
features may not be present in all cases although hypotonia, mongoloid slant, epicanthal fold, flat
face are seen in >50% cases. As many cases may be asymptomatic; all infants with Down syndrome
should undergo 2 D-echo/color doppler study. Regular thyroid function tests should be done in
cases of all age groups, It is prudent to advice non-invasive tests for antenatal screening for Down
syndrome for all women irrespective of age.
GENE/02(P).ALLAN-HERNDON-DUDLEY SYNDROME- A CASE REPORT
Sanjay Verma, M.M.A.Faridi
Department of Pediatrics, University College of Medical Sciences & Guru Tag Bahadur Hospital,
Dilshad Garden, Delhi.
Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked disorder caused by mutation in the
gene encoding the monocarboxylate transporter-8. We report a child with suggestive clinical and
lab parameters. CASE REPORT: A 10-year-old child presented with global developmental delay,
feet contractures, nystagmus and impaired hearing. There was a history of generalized weakness,
hypotonia, reduced muscle mass and delay in developmental milestones since childhood. Birth
history was normal & there was no similar family history in last three generations. On examination,
vitals were normal; while anthropometry was: Wt 20 kg, Ht 128 cm, HC 49 cm and CC 57 cm.
Child had an elongated face, large simple ears; high arched palate, bilateral ptosis, nystagmus,
dysarthria & impaired hearing. Generalized muscular wasting, bilateral equines deformity of feet,
cubitus valgus, scoliosis, pectus-excavatum & testicular atrophy were other associated findings.
Routine lab investigations including karyotyping ware normal. Thyroid profile revealed: Free
T3=730 pg/dL(N=230-660pg/dL), Free T4=1.0 ng/dL(N=0.8-2.2 ng/dL) & TSH=4.4 mIU/L(N=0.76.4 mIU/L). This was consistent with findings suggestive of AHDS. Child was advised corrective
surgery for feet deformity & he is still on our follow- up. DISCUSSION: AHD Syndrome is
characterized by mutations in the monocarboxylase transporter-8 gene. Protein encoded by this
gene is needed for the transport of T3 into neurons. Abnormal transporter function is reflected by
elevated free T3 & lowered free T4 levels in the blood. Infancy and childhood are marked by
hypotonia, weakness, reduced muscle mass and delay of developmental milestones. Facial
manifestations are not distinctive, but the face tends to be enlarged, ears are often simply formed or
cupped. There is generalized weakness & speech is often dysarthric. Hypotonia gives way to
spasticity in adult life & contractures usually develop at joints. Cognitive development is severely
impaired & behavior tends to be passive. Clinical signs of thyroid dysfunction are usually absent in
affected males,
GENE/03(P).MITOCHONDRIAL ACETOACYL-COA THIOLASE (Β-KETOTHIOLASE)
DEFICIENCY
Radha G. Ghildiyal, Milind S. Tullu, Niranjan Singh, Shrinivas Tambe
Department of Pediatrics, T.N. Medical College & BYL Nair Hospital, Mumbai 400008
Introduction: Mitochondrial acetoacyl-CoA thiolase deficiency is a rare autosomal recessive
disorder leading to organic academia (gene location- long arm of chromosome 11). Case report: 15months-old girl born of third degree consanguineous marriage was admitted with acute
gastroenteritis (grade II dehydration), acidotic breathing, and altered sensorium. In-spite of adequate
rehydration, the patient had persistent metabolic acidosis with alteration of sensorium. The
septicemia work up was negative. Further investigations revealed high anion-gap acidosis with
ketonuria with mild hyperammonemia, hence provisionally diagnosed as an organic acidemia. His
serum & urine gas chromatography - mass spectroscopy was suggestive of mitochondrial acetoacyl
CoA thiolase deficiency. Patient responded dramatically to bicarbonate infusion and is presently
being treated with oral carnitine and low protein diet. Similar disorder exists in the elder sibling
(diagnosed as organic acidemia). Discussion: Mitochondrial acetoacyl-CoA thiolase deficiency is a
rare genetic disorder with variable clinical manifestations (ranging from asymptomatic course to
repeated attacks of severe metabolic acidosis wit intercurrent infections). Mental development is
usually normal with treatment (with a favorable prognosis). Acute episodes are treated with
adequate hydration and bicarbonate infusion (for acidosis). Long term management includes
restriction of protein intake and oral carnitine.
GENE/04(P).OSTEOGENESIS IMPERFECTA TYPE III: A CASE REPORT
Karuna Thapar, Naresh Jindal
Department Of Paediatrics, Government Medical College & Hospital Amritsar
Osteogenesis Imperfecta is disorder with congenital bone fragility caused by the mutations in the
genes that codify for Type I procollagen (COLA1A1 and COLA1A2) According to Sillence et al, 4
types have been described, out of which Type-II is lethal in infancy , however, Type-III can have a
full life span. No information available regarding exact prevalence, however, in U.S., estimated to
be 1 / 20000 live births. We are reporting such a case admitted in Department of Paediatrics,
Government Medical College, Amritsar due to its rarity. Case report: A 7 year old female child
admitted with progressive bowing of legs , multiple bone fractures and respiratory distress since
last 2 years. Perinatal history uneventful and development normal till 5 years of age. Father and
mother were short statured but didn’t have any fractures. On examination, a wide open anterior
fontanelle , flat mid-face , frontal bossing, multiple fractures involving both clavicles, Humerus,
femurs, tibias, pectus carinatum of chest wall, exaggerated metaphyseal flaring at wrist with slender
diaphysis, scoliosis and slight bluish sclera was seen. Child was short statured (length 82 cms, <
3rd percentile) and macrocephalic (HC 60 cms ) . There was no hearing loss and neurological
examination was normal. Child was having severe bronchopneumonia and CCF probably due to
immobility from a long time. Radiological examination has shown multiple bone fracture with loss
of bone mass, also popcorn appearance at knee joint was seen. She was classified as Type-III OI
according to Sillence classification.
GENE/05(R).EDWARDS SYNDROME, A CASE REPORT
B.K.Meher, P.Mishra, K.J.Prusty,A.K.Mohanty
S.V.P.Post Graduate Institute Of Paediatrics
Trisomy 18 is the second most common multiple malformation syndrome with an incidence of 1 in
8000 live births. Indivisuals with such conditions have distinct phenotypic features like malformed
ears, microcephaly, cleft lip/palate, micrognathia, epicanthal folds and cardiac defects like VSD
and PDA. Clenched fisting with index finger overlapping the 3rd and 4th fingers as almost distinctive
of this disorder. The survival rate is low with a very poor prognosis. Recurrence risk is very
low(<1%). With h/o a sibling death (1 1/2 year female child ), due to unknown cause , a full term,
1500gm, four day female baby of Yasoda Sahu, born vaginally in hospital, a product of nonconsanguious marriage, without any h/o birth asphyxia, PROM, Prolonged labor, maternal illness
or drug intake, presented with chief complaints of refusal to feed for 2 day. Clinical examination
revealed weight :1500gm; length:39cm; head circumference:29cm; chest circumference:29cm;
conscious baby with pulse rate =130/min; resp rate=64/min, regular AT; prominent occiput;
micrognathia; low posterior hairline; prominent chest wall with decreased breath sounds on right
side, short sternum; scaphoid abdomen; acrocyanosis(recovered after O2 inhalation); CTEV(left);
bilateral closed fisting with 5th digit overlapping 4th and index finger overlapping middle finger,
short nails on all digits and dactylography showing simple arch pattern in all digits. Investigation
revealed Hb=10gm%, TLC=6000mm3, DC=N32E2L60M6B0, chest X-ray showed Diaphragmatic
Hernia on right side and short sternum. Cytogenetic analysis of PHA stimulated peripheral blood
lymphocytes revealed a Female karyotype with the presence of an extra copy of chromosome 18
(trisomy 18) in all the cells analysed. The condition is confirmed to be Edwards Syndrome.
GENE/06(P).AUTOSOMAL DOMINANT CATARACT - A FAMILIAL DISORDER
Ashish Lothe, Abhishek Paralikar, Pallavi Saple, Vidya Pawar, Kalpesh Date, Vijaya Bohra, Piyush
Shah
Department of Pediatrics, Grant medical College/Cama & Albless hospital, Mumbai
Congenital cataract is a common major abnormality that frequently causes blindness in infants. One
third of all cases can have family history mainly affecting siblings. The etiologies include
congenital infections like Rubella, Chicken Pox, Toxoplasmosis or metabolic disorders or Down
Syndrome. But cases with familial inheritance are very rare. Autosomal dominant congenital
cataract seems to be the most common form of congenital cataract. Mutations at multiple sites have
been incriminated. We report a family where congenital blindness was inherited through 5
successive generations. 2 year old male child born of non consanguinous marriage was admitted
with complaints of impaired vision and white opacity in both eyes noticed by parents since birth.
Child was not looking at parents or other objects but used to turn head to sounds. Linguistic
development was normal. There was affection of individuals in 5 successive generations who had
congenital cataract depicting autosomal dominant inheritance. On examination child had growth
retardation without microcephaly or any dysmorphic features. Systemic examination was normal.
Ophthalmic evaluation revealed bilateral mature cataract. Father’s ophthalmic evaluation revealed
the same findings. Karyotyping showed no abnormality. Linkage analysis for mutations couldn’t be
done. The familial cataracts, if operated early in life give better outcome. Counselling regarding the
pattern of inheritance and early detection and surgery is beneficial.
GENE/07(P).NEURAL TUBE DEFECTS-A CLINICAL PROFILE
V.Priyavarthini,Saradha suresh,K.Seeniraj,Mangayarkarasi senguttuvan
Institute of child health and hospital for children,Egmore,Chennai-600008
Neural tube defects are a spectrum of illnesses that pose several challenges in management and
follow up. The psychological impact to the mother and the family is huge. Ironically, they are
preventable. Aim: To study the clinical profile of neural tube defects in children in a tertiary care
centre. Study design: Descriptive study. Methodology: 67 children presented with meningocele and
myelomeningocele to the Department of Paediatric Surgery, Institute of Child Health, Chennai in
the year 2005 were studied. Age at presentation, sex, antenatal history, clinical features, associated
factors, management and outcome were recorded. Statistical analysis: Outcomes expressed in tables
and percentages. Results: Open neural tube defects were commoner (60%) with preponderance for
the lumbo-sacral region. Neurological deficits were present in 75%, CSF leak in 45% and
meningitis 5%. Associated congenital malformations were detected in 50%. USG cranium revealed
hydrocephalus in 25% and agenesis of corpus callosum in 30%. The sex distribution was equal.
Term newborns predominated (78%). A sizeable proportion (40%) presented beyond the neonatal
period. Consanguinity was present in 20%. Surgery was done in about 50% of cases with uneventful
post-operative period. Antenatal USG was done in 15% of cases. There was no documented or
reliable history of periconceptional folic acid intake. Conclusions: Periconceptional
supplementation of folic acid to all women of child bearing age as part of RCH program is
reemphasized and should be promoted vigorously to prevent the occurrence of neural tube defects.
Early referral may help improving the outcome in significant proportion of cases.
GENE/08(P).MECKEL GRUBER SYNDROME - A RARE ENTITY
Prashant Patil, Ashish Lothe, Pallavi Saple, Ashok Rathod
Department of Pediatrics, Grant amedical College/Cama & Albless hospital, Mumbai
Meckel Gruber syndrome is rare lethal autosomal recessive disorder characterized by triad of
encephalocele, postaxial polydactyly and large polycystic kidneys caused by failure of mesodermal
induction. Associated congenital anomalies are soft palate, wide anterior fontanelle, pulmonary and
hepatic hypoplasia. Infants with Meckel Gruber syndrome can be diagnosed based on their
appearance at birth, or by ultrasound before birth, usually in the second trimester of pregnancy.
Finding at least two of the three features of the classical triad, in the presence of normal karyotype
makes the diagnosis. Here we present a case admitted with all features of this syndrome. Full term
male newborn weighing 2.6 kg, born of non consanguinous marriage, was admitted in NICU with
severe respiratory distress, & multiple congenital malformations. There is no family history of
similar complaints or any significant antenatal complaints. Baby had malformations including
occipital encephalocele, right hand polydactyly, soft cleft palate, receding forehead, short neck &
small narrow chest. External genitalia were normal. X ray chest showed pneumonia. Ultrasound
revealed had bilateral polycystic kidneys with pelvic urethral obstruction, with hepatomegaly with
altered texture with normal biliary system. Liver & renal function tests were normal. Ultrasound of
skull showed occipital meningoencephalocele with herniation of 3/4th of brain matter into sac with
obstructive hydrocephalus. Karyotyping was normal. Patient was ventilated within few hours of
birth but succumbed to death. The diagnosis is clinical & requires presence of classic abnormalities
of this extremely rare disorder.
GENE/09(O).SPECTRUM OF LEUKODYSTROPHIES AT A GENETIC CLINIC IN
MUMBAI
Parag M Tamhankar, Mamta N Muranjan, Shilpa Ranade, Pratima Kondurkar
Genetic Clinic, Department of Pediatrics, KEM Hospital, Parel, Mumbai
Leukodystrophies are determined group of progressive disorders affecting myelin in the brain,
spinal cord and peripheral nerves. Aims and objectives: To study the clinical, biochemical and
neuroradiological features in different types of leukodystrophy. Material and Methods: Cases
diagnosed as leukodystrophy on the basis of clinical features and /or specific enzyme assay over a
period of 8 years from January 1996 through December 2003 were analyzed retrospectively.
Results: 34 cases (M: F ratio= 1.26) were diagnosed. Krabbe disease (41.2%) and metachromatic
leukodystrophy (29.4 %) were the commonest. Rare disorders: Canavan disease 5.9%,
cerebrotendinous xanthomatosis 5.9%, X-linked adrenoleukodystrophy 2.9%, Pelizaeus Merzbacher
disease 2.9%, megalencephalic leukoencephalopathy with subcortical cysts 2.9%, neuronal ceroid
lipofuscinosis 2.9%, and undiagnosed cases 5.8 %. Common ages at presentation were late infantile
(50%) & early infantile presentation (26.5%). Cognitive impairment (70.6%) and neuroregression
(64.7%) were the most frequent followed by developmental delay (35.3%), speech abnormality
(35.3%), seizures (35.3%), gait disturbances (11.8%) and visual impairment (8.8%). Abnormality of
higher functions was found in 67.6%, 35.3 % had hypotonia, 50% had hypertonia, 38.2% had
hyperreflexia, and 32.3% had hyporeflexia. Cataracts were detected in cerebrotendinous
xanthomatosis. Abnormal investigations: elevated CSF protein level in Krabbe disease (6 cases), Xlinked adrenoleukodystrophy (1 case), severe sensory motor neuropathy in metachromatic
leukodystrophy (3 cases), Krabbe disease (5 cases). Enzyme assays or confirmatory studies were
done in 91.2% patients. Neuroimaging was done in 94.1%. The changes noted were: deep white
matter changes (70.6%), peripheral white matter involvement (26.5 %), gray matter involvement
(17.6%), lack of myelination or delayed myelination (20.6%), non specific white matter pattern
(11.8%), cerebellar involvement (38.2%), cerebral atrophy (14.7%), abnormalities of basal ganglia
(14.7%), thalamic abnormalities (8.8%), brain stem involvement (20.6%) and involvement of
corpus callosum (14.7%). Conclusion: Metachromatic leukodystrophy and Krabbe disease were the
commonest. Early and late infantile disease was the most frequent presentation. Cognitive
impairment and neuroregression with gait and/ or speech abnormalities should arouse suspicion.
Characteristic abnormalities of white matter on neuroimaging can aid diagnosis.
GENE/10(R).HOLT ORAM SYNDROME: A CASE REPORT
Bhatia Ravi, Gupta M,
1-ra-6,gaytri Nagar, Hiran magri sector 5,Udaipur 313002
Introduction: Holt Oram Syndrome is a heart upper limb malformation with an autosomal dominant
Inheritance and near complete penetrance with variable expression. First described in 1960. The
responsible gene has been mapped to band 12q 24:1 Case History: One and half year old male
born out of non consanguineous marriage was admitted to our ward with complaints of fever and
cough of five days duration .On examination the patient was febrile,HR 180/min,RR 68/min,Resp
sys :bilateral crepitations, SCR, ICR. CVS: low pitched mid diastolic murmur at the lower sternal
edge and apex. I st heart sound was normal and there was fixed splitting of second heart sound.
Thumbs in both hands were absent since birth and there was webbing of little and ring fingers at
base in both hands. Investigation revealed Hb of 10gm/dl,TLC 10,600/cu.mm.X Ray chest showed
Bilateral Infiltration and there was no cardiomegaly.X Rays of both hands revealed absent thumbs
other bones being normal.2-d color Doppler echo revealed a 18 mm wide ASD Secndum defect
with left to right shunt. Based on the above findings a diagnosis of Holt Oram Syndrome was made.
Parents were counseled about the disease. The patient was treated for bronchopneumonia and
advised surgery for cardiac ailment at a later stage since the cardiac problem was not interfering
with daily activities
GENE/11(P).PEUTZ-JEGHERS SYNDROME
A.R. Dhongade, R.R. Palliana,N. Birla M. Deogaonkar, R.K. Dhongade
Department of pediatrics,Sant Dyaneshwar Medical Education Trust, Pune 4110030
Peutz-Jeghers syndrome is a very rare autosomal dominant inherited disorder associated with
intestinal polyposis (hamartomas typically) and mucocutaneous pigmentation ( perioral, perianal
and on the digits ). The etiology is a genetic mutation of the gene STK11/LKB1 located on band
19p13.3. Our patient was a 13 year old boy who presented with complaints of colicky abdominal
pain in the epigastric region since 6 months which occurred intermittently and was aggravated after
consumption of food. The pain would be relieved by antispasmodics. The child also had multiple
melanotic macules 1-5mm in size, in the perioral and perianal areas which were present since 1 yr.
the patients father also had similar complaints. A barium meal follow through revealed a
radioluscent filling defect in the body of the stomach, which appeared to be a polyp. Histopathology
of polyp revealed extensive smooth mucle arborisation which was characteristic of Peutz-Jeghers
syndrome. Peutz Jegher's syndrome has a very rare occurrence rate(1 in 60,000) with equal sex
distribution.Cancer soon develops into the gastrointestinal tract with overall incidence more than
general population.Pigmented lesions make early diagnosis possible in pediatric patients which
usually fade away by puberty.
GENE/12(P).CAMPOMELIC DYSPLASIA - A UNIQUE SKELETAL DISORDER
Prashant Patil, Ashish Lothe, Pallavi Saple
Department of Pediatrics, Grant amedical College/Cama & Albless hospital, Mumbai
Campomelic dysplasia is a severe rare form of congenital short limbed dwarfism characterized by
Campomelia (congenital bowing of long bones) associated with skeletal & extraskeletal features
including cleft palate, hypoplastic scapulae, distinctive facial features, narrow bell shaped thorax, ,
pretibial pits, hypoplastic lungs, club feet, malformations of cervical spine, heart, & kidneys.
Another characteristic feature is male to female sex reversal seen in two-thirds of XY cases. It is an
autosomal dominant disorder caused by mutations in the SRY related gene called SOX9. We
describe a case of this unique fatal type of skeletal dysplasia. Full term female child born to primi
gravida by emergency Caesarean section with 1st & 5 th minute apgar scores of 5 & 7 respectively
was admitted with congenital malformations and severe respiratory distress. There was no
significant family history. Antenatal ultrasound had recorded single intrauterine fetus showing
multiple limb deformities with polyhydroamnios. Anthropometry revealed weight of 2.6 kg, &
length of 37 cms with upper to lower segment ratio of 2:1 depicting short limbed disproportionate
short stature. Head circumference was 33 cms. On examination baby had multiple skeletal
malformations like bowing of long bones, narrow bell shaped chest, cloverleaf shaped skull, soft
cleft palate, distinctive flattened facies, bilateral talipus equinovarus, pretibial pits & multiple café
au lait spots. Patient had severe respiratory distress with inspiratory crepts, & hepatosplenomegaly
with apparently normal other systemic examination. X ray showed bowing & angulations of all long
bones with telephone handle appearance, flat vertebral bodies, normal ribs, hypoplastic pelvis &
scapulae. Abdominal ultrasound was showing hepatosplenomegaly with normal genitalia.
Karyotyping was normal. Patient was ventilated within an hour of life, but general condition didn’t
improve & she died on day 6 of respiratory insuffiency. This disorder is almost fatal with purely
clinical diagnosis substantiated by classical radiological features.
GENE/13(P).EPIDERMOLYSIS BULLOSA IN IDENTICAL TWIN :- A RARE ENTITY
Sushma Save, Hitesh Bhambani, Sangeeta Amladi, Balu Rathod, Archana Kher, Alka Jadhav
From :- Department of Pediatrics, TNMC & BYL Nair Hospital Mumbai -8.
Introduction:- Epidermolysis Bullosa (EB) is the group of genetically determined disorders
characterized by excessive susceptibility of the skin & mucosa to separate from the underlying
tissues following mechanical trauma. Here we report the rare case of EB. Case History:- A pair of
twin female, born of II degree consanguineous marriage presented with vesico-bullous leasion at
birth. 18-20hr of life they had bilateral bullae & blistering of arms & legs. Examination revealed
multiple fluid filled leasions on body. Few tense, few flaccid with sero- sanguinous fluid, few dried
up leasions with scarring. On aspiration clear serous fluid obtained. Skin Biopsy (H&E stain)
showed findings suggestive of dystrophic / junctional EB. Histologically babies have features of
DEB / JEB, correct type will be obtained after electron microscopy & immunohistochemestry,
which has been arranged. Babies were treated with non-adhesive dressing, systemic & local
antibiotic. Discussion:- EB is diverse group of disease that is characterized by skin blistering.
Classification is based on clinical characteristic, inheritance pattern & the level of cleavage within
the skin. This prominent histologic feature defines three main groups:- simplex (cleavage within the
basal cells of the epidermis), junctional (within the lamina lucida of the basement membrane zone)
& dystrophic(beneath the lamina densa of the basement membrane). At each level, there are several
protein components that contribute to skin integrity. These molecules all are expressed in utero
during the first trimester, allowing prenatal diagnosis. The simplified classification system that
recognizes three major EB types, Epidermolysis Bullosa Simplex (EBS), Junctional Epidermolysis
Bullosa (JEB), Dystrophic Epidermolysis Bullosa (DEB) & 11 minor subtype. The most precise
diagnostic tool is carefully performed skin biopsy to obtain specimen for immunofluroscence
mapping & ultrastructural study. To date the main stay of therapy for this group of disorder is
supportive.
GENE/14(P).GALACTOSEMIA- A CASE REPORT
Sushma Save, Shrinivas Tambe, Sunil Jumnake, Archana Kher
From :- Department of Pediatrics, TNMC & BYL Nair hospital, Mumbai-8.
Introduction:- Galactosemia is an autosomal recessive disorder caused by inability to metabolise
galactose & it has prevalence of 1 in 60,000. Here we report this rare case of galactosemia. Case
History :- Day 5 old full term female child with birth weight of 2.3kg,cried immediately after birth
born of non-consanguineous marriage presented with lethargy, refusal of feed, seizure &yellowish
discoloration of skin since day 2 of life. Baby was breastfed on day one of life. Examination
revealed deep icterus, neck retraction, umbilical discharge. On systemic examination baby had poor
cry, tone, activity & suck with significant hepatosplenomegaly. In view of presenting features,
examination findings & evidence of hypoglycemia ,a possibility of metabolic disorder like
galactosemia was made. Investigation showed positive screening test for galactosemia & enzyme
assay revealed GALT (Galactose-1 Phosphate Uridyl Transferase) deficiency. Hence baby was
started on galactose free diet. Discussion :- “Classic Galactosemia” is a serious disease with early
onset of symptoms. It is due to structural gene mutation producing altered enzyme (GALT), which
does not function normally. Some individuals homozygous for another gene, called Duarte variant,
normally have half-normal GALT levels & are asymptomatic. The accumulation of galactose can
cause complications such as feeding problems, vomiting, sepsis, diarrhea, dehydration
hypoglycemia, jaundice, liver failure, kidney failure & brain damage. Galactosuria at birth but
develop gradually over weeks to months. Mental retardation evident after 6-12 months & is usually
irreversible. Sepsis to E.coli is frequent among galactosemic neonates & can cause death. The
mainstay of therapy is lactose free diet, soy milk is beneficial for infants. Carrier testing & prenatal
diagnosis can be performed by direct enzyme analysis of amniocytes or chorionic villi. Early
diagnosis & treatment have improved the prognosis of galactosemia.
GENE/15(P).CAREY- FINEMAN- ZITER SYNDROME : A RARE CASE
Jyoti Suvarna, C T Deshmukh, Parag Tamhankar
Department of Pediatrics, Seth G. S. Medical College & K.E.M. Hospital, Acharya Dhonde Marg,
Mumbai- 400012.
Introduction: Carey- Fineman- Ziter Syndrome is a very rare inherited disorder characterized by
features of Moebius syndrome (unilateral or bilateral facial palsy with or without other
craniopathies like XII, VI, IX or X palsy, with or without other malformations), Pierre Robin
sequence (micrognathia with high arched palate or cleft palate) and muscle disorder (hypotonia or
myopathy). Aim: To study the clinical profile of Carey- Fineman- Ziter syndrome. Case Report: A
five month old child (born of a non-consanguineous marriage) came with fever, cough, and
breathlessness for 5 days. He was a full term normal delivery (birth weight- 2.7 kg) but had feeding
difficulties (requiring gavage feedings), recurrent respiratory tract infections and failure to thrive
since birth. On examination child had a weak cry, poor gag, pooling of secretions, expressionless
myopathic face due to bilateral facial diplegia, micrognathia, high arched palate hypotonia (floppy
infant), and developmental delay (motor more than mental). X ray chest and CT chest showed a
right upper and middle lobe atelectasis secondary to aspiration. CPK levels, laryngoscopy, USG
brain and fundoscopy were normal. EMG showed primary muscle disorder. Carey- Fineman- Ziter
syndrome was diagnosed on the basis of features of Moebius syndrome (bilateral VII nerve palsy
with IX, X nerve palsy), Pierre Robin sequence (micrognathia with high arched palate) and muscle
involvement (hypotonia with myopathy). Discussion: Although Moebius syndrome is well known
clinical entity, Carey Fineman Ziter syndrome is rare and may be missed if not looked for. It is
proposed to be due to a gene defect causing a failure in the formation of the motor nucleus of the
VIIth cranial nerve and a type of muscular dysgenesis characterized by hypotonia and sometimes
myopathy and congenital contracture. Feeding difficulties may lead to life threatening respiratory
infections. The recurrence risk is higher than common Moebius syndrome.
GENE/16(R).MACRODYSTROPHIA LIPOMATOSA- A CASE REPORT
Harsh Gupta, Vikas Tripathi
Acharyashree Bikshu Government Hospital, Moti Nagar, New Delhi
Macrodystrophia lipomatosa is a rare form of localized gigantism characterized by overgrowth of
all mesechymal elements of a digit. The abnormality is always unilateral and in the distribution of
the median nerve (upper extremity) or/and the plantar nerve (lower extremity). The cause of this
condition is obscure. A 9 months old female baby presented to the hospital with complaints of
enlarged 2nd and 3rd toes of left leg. The enlargement of toes was gradual since birth. There was no
local change in color, pain or constitutional symptoms. There was no family history of similar
problem. There was no adverse antenatal history. On local examination, 2nd and 3rd left toes were
enlarged in both vertical and transverse directions, to the size more than double on the right side.
There was syndactyly of the soft tissue component of the second and third toes at the level of the
proximal phalanges. There was no tenderness, dilated vessels or pitting edema over the toes.
Movement of toes was painless. Rest of general and systemic examination was normal. On imaging,
X- ray showed both bony and soft tissue overgrowth. Phalanges were enlarged both in length and
transverse dimension with normal trabecular pattern. Translucencies in soft tissue were seen due to
an increase in adipose tissue. A diagnosis of macrodystrophia lipomatosa was made on above
findings. This case is being reported because of its rarity. Figure 1a & 1b: Clinical image & X-ray
of 2nd & 3rd left toes showing macrodystrophia lipomatosa.