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At a glance

Rare form of anterior segment dysgenesis of the eye associated with endocrine disorders, cerebral malformation, mental retardation, facial anomalies, and importantly tracheal stenosis.

Synonyms

Anterior Chamber Cleavage Disorder; Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis Syndrome.

Incidence

Extremely rare; case report of only two patients: an unrelated boy and girl.

Genetic inheritance

A suggested autosomal recessive inheritance trait has been suggested. There is a questionable relationship to Peters-Plus Syndrome because of similar ocular abnormalities.

Clinical aspects

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.

Anesthetic considerations

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.

Other conditions to be considered

  • Peters Syndrome (Peter’s Anomaly): Anterior segment dysgenesis with abnormal cleavage of the anterior chamber of the eye secondary to mutations involving the PAX6 gene. It is characterized by leukoma (corneal opacity), central defect of Descemet’s membrane, and shallow anterior chamber with synechiae between the iris and cornea. It is associated with dwarfism and delayed mental development.

  • Peters Plus Syndrome (Krause-van Schooneveld-Kivlin Syndrome, Krause-Kivlin Syndrome):...

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