![]() Diffusion weighted images (DWI) revealed high signal intensity in the internal and external capsules and much of the subcortical white matter, with restricted apparent diffusion coefficiency (Fig. 1a), and brain magnetic resonance imaging (MRI) (1.5 T) suggested mild delay in myelination (Fig. Initial brain computed tomography (CT) was unremarkable (Fig. Febrile illness was consistently associated with neurological deterioration, and the patient progressed to opisthotonic posturing with generalized dystonia and segmental myoclonic jerks, which never resolved while awake.īone age was 1 year 8 months at the age of 1 year 10 months (TW2 method). At the age of 28 months, her height was 96 cm (+2.9 SD), weight 10.3 kg (−1.1 SD), and head circumference 46.5 cm (−0.7 SD). At 11 months, domiciliary oxygen was introduced because of chronic respiratory failure. Nasogastric tube feeding was started due to recurrent aspiration pneumonia. Anthropomorphic parameters revealed accelerated height in late infancy, with normal head circumference and decreased weight gain. Limb motor conduction velocities were within normal limits. Phenobarbital, clonazepam, valproate, and midazolam could not completely control seizures. Electroencephalography (EEG) revealed diffuse slow spike and wave discharges with 1- to 2-s periods of suppression. Segmental myoclonic jerks occurred and were difficult to control, but consciousness returned. Steroid pulse therapy was initiated for a suspected acute encephalopathy of unknown etiology. Respiratory distress developed that required mechanical ventilation. At age 8 months, she was admitted with decreased consciousness 48 h after an acute febrile illness. ![]() At 7 months, she was evaluated for psychomotor retardation, hypotonia, bilateral intermittent esotropia, hyperreflexia, and positive Babinski reflex. There was no consanguinity or family history of neurological disorders. She was the second child of healthy parents. The patient was a Japanese female infant, born full term with normal delivery. This method has potential application to neurological disorders such as GABA-T deficiency. In this study, we detected elevated GABA in a patient by proton magnetic resonance spectroscopy ( 1H-MRS) using the LCModel to quantify the spectra automatically. ![]() Considering the inhibitory nature of GABA activity in the central nervous system (CNS), the paradoxical neurological phenomenon associated with seizures in cases of GABA excess is of interest. Homocarnosinosis (homocarnosine is the GABA:L-histidine conjugate) is very rare (two cases) and may represent an allelic form of carnosinase deficiency(Pearl et al 2007). Succinic semialdehyde dehydrogenase (SSADH) deficiency is the most prevalent of the GABA degradation disorders and one in which pharmacologically active GHB, as well as GABA, accumulate in patient body fluids (Jakobs et al 1993 Pearl et al 2007). Disorders of gamma aminobutyric acid (GABA) metabolism are rare and manifest prominent neurological sequelae 4-aminobutyrate aminotransferase (γ-aminobutyrate: GABA transaminase, or GABA-T OMIM 137150) deficiency is characterized by severe psychomotor retardation, hypotonia, hyperreflexia, seizures, high-pitched cry, and growth acceleration, associated with early infantile death in two siblings (one family) (Jaeken et al 1984 Jakobs et al 1993).
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