Rare form of anterior segment dysgenesis of the eye
associated with endocrine disorders, cerebral malformation, and tracheal
Anterior Chamber Cleavage Disorder; Cerebellar Hypoplasia,
Hypothyroidism, and Tracheal Stenosis.
Extremely rare; case report of
only two patients: an unrelated boy and girl. Autosomal recessive
inheritance. Questionable relationship to Peters-plus syndrome because of
similar ocular abnormalities.
Both children had cerebellar hypoplasia (with
Dandy-Walker malformation in the boy), hypotonia, and mental retardation.
Microcephaly with a round face and broad nasal ridge, thick scalp hair with low
hairline, short neck, narrow external auditory meatus, hip dysplasia, short feet,
and fusion of the lower incisors were present in both patients. Tracheal stenosis
was common to both; however, chronic inflammatory lung disease and abnormal
vertebral shape were listed as frequent signs only; thus they probably occurred in
one of the two patients. Growth hormone deficiency and congenital hypothyroidism
occurred in both children. The presence of anterior chamber cleavage disorder
(plus a coloboma of the right iris in the female) prompted the possible
association with Peters-plus syndrome. The girl had a “shield” thorax and the
boy had hypoplasia of the penis. The boy died at age 3.5 years. No mention was
made of the girl's outcome.
No reports related to anesthetic
management were found. Recommendations include screening for tracheal
stenosis (stridor and/or wheeze, tachypnea, indrawing, cyanosis, chest
radiograph, CT scan) and hypothyroidism (thyroid-stimulating hormone,
T3/T4 levels). Narrow nasal passages may make nasal intubation
difficult. Always consider difficulties with airway management if
craniofacial abnormalities are present and tracheal stenosis. Difficulty
maintaining patency of trachea if dynamic stenosis; consider maintaining
spontaneous ventilation and avoiding muscle relaxants until trachea is
intubated and lung ventilation confirmed. Smaller endotracheal
tube may be required. May be prone to postoperative edema at site of
stenosis if the endotracheal tube inserted was too tight. Correction of
hypothyroidism prior to anesthesia is ideal. In case of an emergency and if
suspicion of hypothyroidism is high, a suggested strategy is to draw blood
for thyroid hormone dosage and administer a single 25-μg thyroxine
dose. Poor muscle tone/coordination may predispose to aspiration risk and
postoperative respiratory dysfunction.
Peters Syndrome (Peters Anomaly): Anterior segment dysgenesis with abnormal
cleavage of the anterior chamber of the eye secondary to mutations involving
the PAX6 gene.
Krause-Kivlin Syndrome: Same as Peters syndrome with the
association of blindness, cleft lip/palate, short-limb dwarfism, delayed
mental development, and cardiovascular defects (ventricular septal defect,
atrial septal defect). Brain atrophy, seizures, and hydrocephalus are often
Jung C, Wolff G, Back E, et al: Two unrelated children with developmental
delay, short stature and anterior chamber cleavage disorder, cerebellar
hypoplasia, endocrine disturbances and tracheostenosis: A new entity? Clin Dysmorphol