White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Alternate names

Curatolo Cilio Pessagno syndrome; Familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency; Curatolo-Cilio-Pessagno syndrome

Definition

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition.

Epidemiology

Only a few cases have been described.

Cause

• The cause is unknown but may be related to a disorder of axonal development.
• It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18; or result from metabolic causes; drugs (cocaine); or viral infection (influenza).

Inheritance

This condition is inherited in an autosomal recessive or X-linked way.

Signs and symptoms

• This condition characterized by brain anomalies; an unusual face with broad nasal root, widely spaced eyes (hypertelorism), and a very small chin (micrognathia); failure to thrive; severe intellectual disability; and lack of muscle tone (hypotonia).
• Exams of the brain showed poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain).
• Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Aplasia/Hypoplasia of the corpus callosum
• Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
• Cerebral white matter hypoplasia
• Frontal bossing
• Hyperreflexia(Increased reflexes)
• Hypertelorism(Wide-set eyes)
• Intellectual disability(Mental deficiency)
• Microcephaly(Abnormally small skull)
• Micrognathia(Little lower jaw)
• Muscular hypotonia(Low or weak muscle tone)
• Short stature(Decreased body height)
• Wide nasal bridge(Broad nasal bridge)

30%-79% of people have these symptoms

• Aplasia/Hypoplasia of the cerebellum(Absent/small cerebellum)
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Synophrys(Monobrow)
• Ventriculomegaly

5%-29% of people have these symptoms

• Adducted thumb(Inward turned thumb)

Diagnosis

Exams of the brain showed poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain).

Treatment

There is no information on specific treatment for this condition.

NIH genetic and rare disease info

• NIH info on White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a rare disease.

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