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3 results
R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
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Clinical picture of neuronal ceroid lipofuscinosis with late infantile onset (LINCL) is characterized by myoclonic seizures and psychomotor regression. We present a case of classic LINCL and reduced cerebrospinal fluid (CSF) pterins in a girl of normal psychomotor development and born to
[Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluid].
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BACKGROUND
A deficiency of the enzyme guanosine triphosphate cyclohydrolase I (GTPCH 1) causes a reduction in the synthesis of tetrahydrobiopterin (BH4), a cofactor that is essential in the synthesis of tyrosine, dopamine and serotonin. It is an infrequent disease that produces psychomotor delay or
Mitochondrial diseases mimicking neurotransmitter defects.
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OBJECTIVE
Mitochondrial disorders are clinically heterogeneous. We aimed to describe 5 patients who presented with a clinical picture suggestive of primary neurotransmitter defects but who finally fulfilled diagnostic criteria for mitochondrial disease.
METHODS
We report detailed clinical features,
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