Gillespie Syndrome

Inherited polymalformative, nonprogressive disorder characterized by aniridia, mental deficiency, cerebellar ataxia, and gross incoordination. Characteristic appearance of the eyes in the first month is crucial in making the diagnosis.

Aniridia-Cerebellar Ataxia-Mental Retardation Syndrome; Aniridia, Partial-Cerebellar Ataxia-Oligophrenia; Gillespie Syndrome II. [NB: Avoid confusing Gillespie syndrome II with Gillespie Syndrome I, which is more commonly referred to as Oculodentodigital Syndrome (also Meyer-Schwickerath-Weyers Syndrome, or Weyers Syndrome III)].

1:61,000 newborns in the United States, 1:96,000 live births worldwide. No racial or sex predilection.

Typically transmitted as an autosomal recessive trait, but one case report suggests autosomal dominant transmission (from mother to daughter).

Unknown. No mutation in the PAX6 gene on chromosome 11, which usually is responsible for familial aniridia. No development of Wilms tumor as in WAGR syndrome [Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation] or Monosomy 11p, another inherited disorder with aniridia.

Diagnosis rests on the presence of partial or complete aniridia, cerebellar ataxia, and mental retardation. Common presentation is fixed and dilated pupils in a hypotonic infant.

Neurologic involvement can be demonstrated by white matter loss on MRI and is manifested as severe motor delay, hypotonia, disabling ataxia, and mental retardation. There may be fusion of cervical vertebrae with neck rigidity. Congenital pulmonary stenosis may be present.

Thorough assessment of mental state and neurologic state is necessary. Assessment must be made regarding airway and neck manipulation. Cervical vertebral fusion may result in difficulties instrumenting and maintaining the airway. Obtain a cardiac ultrasound in the presence of a heart murmur.

In the presence of even moderate mental retardation, regional anesthetic techniques will be challenging. Difficulties in endotracheal intubation may make these patients significant challenges to the anesthetist. Thorough preoperative assessment of motor function enhances monitoring of recovery from anesthesia.

No specific implications or contraindications to specific anesthetic agents. Subacute bacterial endocarditis prophylaxis may be required in the presence of pulmonary stenosis.

Other Syndromes associated with Aniridia:Aniridia type I (AN 1); Aniridia type II (AN 2); WAGR syndrome.

Marinesco-Sjögren Syndrome: Cataracts, cerebellar ataxia, mental retardation, muscle weakness, short stature, and hypergonadotropic hypogonadism. Autosomal recessive.