Encephalopathy, Progressive, Early-Onset, wtih Brain Atrophy and Spasticity
Patient Information
Characteristics
Background and History
This is a recently reported form of brain malformation and progressive developmental delays with visual and hearing deficits.
Clinical Correlations
A small head (microcephaly) can be present at birth. There is early evidence of developmental delays followed by regression and/or stagnation. Two of three reported patients in two unrelated families developed seizures (epilepsy). Evidence of hearing loss is evident early along with indications of visual deficits are present in early childhood. Other neurologic findings are stiffness in the extremities and floppiness of the trunk (main part of the body), abnormal curvature of the spine (scoliosis), with difficulty swallowing, and abnormal muscle movements (dystonia and/or myoclonus).
MRIs of the brain shows multiple defects in development.
Genetics
Inheritance
This is an autosomal recessive condition in which there are mutations in both members of a specific gene. There were no reported neurological abnormalities among the parents of the two families who would be expected to carry a single mutation. Such parents could expect a risk of 25% in each of their children to development this disorder.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
No data are available regarding longevity and no treatment has been reported. The small head size at birth is a clue that neurological abnormalities might be present. Pediatricians and neurologists would likely collaborate on further evaluations. An EEG and brain MRI provide further information.
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