Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11 months of age, during an intercurrent illness. [ncbi.nlm.nih.gov]

At the age of 15 years, when first examined in our Neurology Service, the patient was wheelchair bound and completely dependent, even for feeding. [doi.org]

Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness, and profound developmental delay, or a mild course characterized by mild developmental delay, manageable epilepsy [ncbi.nlm.nih.gov]

In general, D-2-hydroxygluratic aciduria caused by heterozygous IDH2 mutations, has a more severe clinical course than D-2-hydroxygluratic aciduria caused by mutations in the D2HGDH gene. [orpha.net]

Ten months after the initial evaluation, while at school, the patient experienced spontaneous abdominal pain and lower gastrointestinal tract bleeding. An emergency laparotomy confirmed a massive mesenteric thrombosis. [doi.org]

The patient died of a spontaneous mesenteric thrombosis. The postmortem neuropathological findings showed spongiosis and cystic cavitations in subcortical white matter, with minimal abnormalities of the basal ganglia. [ncbi.nlm.nih.gov]

An interesting aspect in this case is the cause of death, mesenteric thrombosis, which is very rare in the pediatric age group 17 and was unexpected in this well-cared-for patient. [doi.org]

He also complained of paroxysmal headache and palpitation. Brain image revealed a symmetrical, extensive subcortical white matter lesion. [ncbi.nlm.nih.gov]

We report an 8-year-old Chinese boy, who had characteristic developmental delay, ataxia and acrocephaly as the main symptoms. He also complained of paroxysmal headache and palpitation. [ncbi.nlm.nih.gov]

The vertebral bodies revealed platyspondyly with irregular, stippled endplates. D-2-HGA has been described as a neurometabolic disorder manifesting a broad range of impairment in mental and motor development. [ncbi.nlm.nih.gov]

A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. [ncbi.nlm.nih.gov]

Facial dysmorphic features have been reported frequently and include a flat face with a broad nasal bridge, and external ear anomalies. In mild cases, the clinical picture is more variable. [orpha.net]

We present a patient suffering from psychiatric symptoms with a metabolic disorder. [ncbi.nlm.nih.gov]

He had first presented at the age of 10 years with psychomotor delay, clumsy gait and moderate mental impairment. Examination showed macrocephaly, cerebellar ataxia and quadripyramidal syndrome. [ncbi.nlm.nih.gov]

At 18 to 24 months, his gait had worsened, with limb clumsiness, language regression, and progressive intellectual deterioration. [doi.org]

Linster, Metabolite proofreading, a neglected aspect of intermediary metabolism, Journal of Inherited Metabolic Disease, 36, 3, (427-434), (2013). [doi.org]

A 19-year-old girl presented with ataxia, facial dyskinesia, and mild cognitive impairment. [ncbi.nlm.nih.gov]

Blood smear did not show acanthocytes. The cerebrospinal fluid was acellular with normal protein and glucose levels. [doi.org]

Computed tomography and magnetic resonance imaging (MRI) of the brain showed characteristic white matter lesions, suggestive of L-2-hydroxyglutaric aciduria. [ncbi.nlm.nih.gov]