Download Acute respiratory distress in Pena-Shokeir syndrome

ORIGINAL
ARTICLE
BOESEN,
FRENCH
Acute respiratory distress
in Pena-Shokeir syndrome
Peter V. Boesen, MD, FACS; Christopher E. French, DO
Abstract
Pena-Shokeir syndrome is a rare, autosomal-recessive
disorder that usually affects newborns. Its etiology is
poorly understood. Pena-Shokeir syndrome is defined by
camptodactyly, multiple ankyloses, pulmonary hypoplasia, and various facial anomalies. These manifestations
are usually severe, and death generally occurs at birth
or shortly thereafter. We describe a case of Pena-Shokeir
syndrome in a 9-year-old girl of above-normal intelligence
who presented with life-threatening airway distress. To the
best of our knowledge, she is the oldest living individual
with Pena-Shokeir syndrome, and the only such patient
whose intelligence was not impaired. We discuss the
acute management and subsequent care of this patient,
who not only survived, but maintained excellent grades
in school.
Introduction
Thirty years have passed since Pena and Shokeir first
described their eponymous syndrome.1 Its signs include
camptodactyly, multiple ankyloses, pulmonary hypoplasia,
and facial anomalies, including micrognathia, ocular hypertelorism, low-set and malformed ears, and a depressed
nasal tip. Since 1974, several authors have added to our
knowledge of this syndrome by reporting involvement of
the cardiovascular, pulmonary, genitourinary, endocrine,
gastrointestinal, and central nervous systems.2-13
Most patients with this syndrome do not survive beyond
the neonatal period and, until now, only 1 such patient
had been reported to have survived beyond 12 months.3
Severe pulmonary hypoplasia, which is present in 83%
of reported cases, is often the fatal component of PenaShokeir syndrome as it results in stillbirth or death within
the first month of life.6,10
In this article, we describe a rare case of Pena-Shokeir
syndrome that was characterized by heretofore unreported
features.
Dr. Boesen is an otolaryngologist in private practice in Des Moines,
Iowa. Dr. French is with the Department of Radiology, St. Luke’s
Medical Center, Milwaukee.
Reprint requests: Peter V. Boesen, MD, 1000 73rd St., Suite 18, Des
Moines, IA 50311. Phone: (515) 267-0691; fax: (515) 327-1214;
e-mail: [email protected]
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Case report
A 9-year-old girl who had been diagnosed with the phenotypic Pena-Shokeir syndrome at birth was found unresponsive at home by her mother and rushed to a hospital.
The mother reported that the girl had appeared to be quite
fatigued throughout the preceding 2 weeks, but that she
was otherwise normal.
The girl’s medical history was significant for reactive
airway disease and restrictive lung disease secondary to
pectus carinatum with severe kyphoscoliosis. The child
had previously been hospitalized for severe, generalized
varicella, laryngotracheobronchitis, multiple episodes of
pneumonia, and complications of acute otitis media. Her
surgical history was significant for a temporary tracheotomy
at birth; she was decannulated following a cleft palatoplasty,
lengthening of the tendo calcaneus, and an open reduction
for congenital hip dislocation. The patient had also experienced two episodes of malignant hyperthermia following
induction of general anesthesia. She had developed apnea
on one occasion following the administration of chloral
hydrate. The child was not taking any medications at the
time of her presentation. Her parents denied any family
history of consanguinity or birth defects.
Just prior to her arrival at the hospital, the patient had
developed acute respiratory distress at home (etiology unknown) and became progressively obtunded. Upon admission to the emergency department, her initial evaluation
was notable for acute respiratory failure and continuous
unresponsiveness. Airway protection via mask ventilation
was initiated, intravenous fluids were started, and a Foley
catheter was placed. Chest x-ray revealed bilateral lung
infiltrates. An arterial blood gas analysis revealed severely
decompensated respiratory acidosis. The complete blood
count indicated leukocytosis and neutrophilia. Ceftriaxone
was initiated in response to suspected pneumonia. Later,
several attempts to intubate her in the emergency department were unsuccessful, necessitating continuous mask
ventilation during a transfer by air ambulance to the Iowa
Methodist Medical Center in Des Moines.
Upon arrival, marginal bleeding was noted in the
patient’s oropharynx; this was believed to be attributable
to the numerous intubation attempts. The child’s neck
was fixed in hyperextension to the left, which revealed a
scar from a previous tracheotomy. Unresponsive and in
ENT-Ear, Nose & Throat Journal ■ November 2004
ACUTE RESPIRATORY DISTRESS IN PENA-SHOKEIR SYNDROME
respiratory failure, she was brought immediately to the
operating room, where an emergency tracheotomy was
successfully performed. The child was transferred to the
pediatric intensive care unit for continued monitoring. After
several weeks, she was able to return home and required
only nightly tracheotomy ventilator support.
Six weeks later, the child again collapsed at home, and
she was transported again to the Iowa Methodist Medical
Center for respiratory and nutritional evaluation. Upon
her arrival at the pediatric intensive care unit, a physical
examination revealed that her tracheotomy tube was stable
and in good position without granulation. The next day,
direct laryngoscopy under general anesthesia showed a
near-complete supraglottic and suprastomal collapse and
a marked anterior displacement of the larynx. A mild
suprastomal granuloma was also noted. No other masses
or lesions were identified inferiorly in the trachea or in
the right or left mainstem bronchi. A loose tooth in the
maxillary arch was found incidentally, and it was removed
to obviate the possibility of aspiration. Dietary analysis
revealed that her nutritional status was poor, and further
diagnostic studies were planned. Ventilator rate settings
were increased, and the patient was subsequently discharged
home in good condition. At this point, her parents refused
a gastrostomy tube for feeding.
Six months later, the patient was rehospitalized because
of continued difficulty maintaining adequate nutrition, and
a feeding gastrostomy tube was placed. Following tube
placement, she returned home and her oral intake (which
remained poor) was supplemented by nightly parenteral
feedings. With adequate caloric intake assured, she experienced no further problems. She continues to undergo
multispeciality medical evaluations quarterly. Despite the
severe motor limitations imposed by the Pena-Shokeir
syndrome, she continues to attend school and maintains
an A average.
Discussion
Pena-Shokeir syndrome is an uncommon, autosomalrecessive genetic disorder.2 Affecting an estimated 1 in
12,000 newborns, the syndrome often strikes the offspring
of consanguineous relationships.8 Of the 60 cases that
have been previously reported in the literature, 32 were
familial and 28 were sporadic.12,13 No racial predilection
has been noted.
The exact etiology of Pena-Shokeir syndrome is unknown, but several theories have been proposed to explain
its characteristic morphology. Investigations conducted by
Moessinger support the hypothesis that the Pena-Shokeir
phenotype is the result of a fetal akinesia/hypokinesia
deformation sequence.14 This would suggest that the time
of onset and the severity of the decrease in fetal movement, together with genetic and environmental inputs,
may interact to produce the observed variations in both
the severity of the syndrome at the time of presentation
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and in the combinations of the defining characteristics
demonstrated.9
Prenatal diagnosis of Pena-Shokeir syndrome is difficult, and most cases are not recognized until birth. Chromosomal analysis of affected patients has consistently
revealed a normal karyotype.1,2 Pregnancies complicated
by polyhydramnios and intrauterine growth retardation on
ultrasound should alert clinicians to the possible presence
of Pena-Shokeir syndrome.8 The affected fetus may also
demonstrate skeletal dysplasias, the defining facial features
of the syndrome, and pulmonary hypoplasia visible on
ultrasound.11 No specific treatment is available for those
affected by Pena-Shokeir syndrome.
In summary, the recent presentation of a 9-year-old girl
with Pena-Shokeir syndrome whose intelligence was not
impaired adds a new dimension to our understanding of a
condition that is almost always fatal during the neonatal
period. This case demonstrates the potential late effects
of this syndrome, and it indicates that early mortality is
not inevitable.
References
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ankyloses, facial anomalies and pulmonary hypoplasia: A lethal
condition. J Pediatr 1974;85:373-5.
2. Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple
ankyloses, facial anomalies and pulmonary hypoplasia––further
delineation and evidence for autosomal recessive inheritance. Birth
Defects Orig Artic Ser 1976;12:201-8.
3. Mease AD, Yeatman GW, Pettett G, Merenstein GB. A syndrome
of ankylosis, facial anomalies and pulmonary hypoplasia secondary
to fetal neuromuscular dysfunction. Birth Defects Orig Artic Ser
1976;12:193-200.
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