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Question :

Posted On : 12 May 2006

Respected Sir, Madam, this is regarding a five month old female baby born of a non non-consanguineous mariage. The baby has severe dystonia since birth, devoplmental delay. sheisinvestigated and her CSF 5NTHF levels are low . She is diagnosed as having ?cerebral folate deficiency and started on Leucovorin recently. will you please guide me to know the outcome of these type of cases. Very few cases have been mentioned in the literature.

Expert Answer :

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Answer Discussion :

pediatriconcall

Answer: Cerebral folate deficiency can be defined as any neuropsychiatric condition associated with low levels of 5-methyltetrahydrofolate {5MTHF}, the active folate metabolite in the cerebrospinal fluid, in association with normal folate metabolism outside the central nervous system, as reflected by normal hematologic values, normal serum homocysteine levels, and normal levels of folate in serum and erythrocytes. Infantile-onset cerebral folate deficiency is a neurologic syndrome that develops four to six months after birth. Its major manifestations are marked irritability, slow head growth, psychomotor retardation, cerebellar ataxia, pyramidal tract signs in the legs, dyskinesias {e.g., choreoathetosis and ballismus}, and in some cases, seizures. After the age of three years, central visual disturbances can become manifest and lead to optic atrophy and blindness. The only identifiable biochemical abnormality consistently found in these children is a low level of 5MTHF in the cerebrospinal fluid.

18 years ago

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