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.
Kieslich M, Vanselow K, Wildhardt G, et al.: [Present limitations of molecular biological
diagnostics in Gillespie syndrome] Klin Pädiatr 213;47, 2001.
Nelson J, Flaherty M, Grattan-Smith P: Gillespie syndrome: A report of
two further cases. Am J Med Genet