Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected T2-hyperintense cerebral white matter and are called \"tigroid pattern\" in the literature. The fornix is a tiny white matter fibers bundle playing crucial role in cognitive functioning, easily overlooked on magnetic resonance imaging and not described in inborn errors of metabolism.
We present a case of glutaric aciduria type 1 with a follow-up of over nine years. The course of the disease is presented in three magnetic resonance scans at the age of 8 and 21 months, and 10 years, with diffusion restriction in the fornix in scan 1 and 2 and with tigroid pattern in scan 3. Despite appropriate diet and supplementation, injury of white matter progressed achieving diffuse stage with tigroid pattern. Psychological tests revealed deficits in patient\'s specific cognitive skills, most likely related to damage to the fornix.
To our knowledge, this is the first report of tigroid pattern of white matter involvement in glutaric aciduria type 1 and the first report of forniceal injury in this disease which seems to be correlated with patient\'s low functioning in all kinds of memory skills, previously not reported in glutaric aciduria type 1.

Sudden unexpected death in infants (SUDI) is a devastating event, and unfortunately is still a burden in many parts of the world, including in South Africa. Due to the absence of routine testing for inborn metabolic diseases in newborns and in a post-mortem context, little is known about the presence of metabolic diseases in local SUDI cases. The aim of this study was to genotype five candidate variants previously associated with metabolic disorders in a cohort of SUDI cases (n = 169) from Salt River Mortuary, Cape Town. DNA was isolated from blood, and SNaPshot® PCR and Sanger sequencing were used to genotype the following variants: ACADM: c.583G > A, ACADM: c.985A > G, GCDH: c.877G > A/T, GALT: c.404C > G/T and GALT: c.563A > G. Four carriers of GCDH: c.877G > A/T were identified, while one infant was homozygous for the founder mutation GALT: c.404C > G/T; the latter which is causative of galactosaemia and was previously undiagnosed. During the follow-up with the family, it emerged that the affected infant\'s identical twin had subsequently demised. The findings in this study highlight possible new candidate variants to assess in South African SUDI cases, and these results directly contribute to the development of a molecular autopsy which is locally relevant. It is evident that until newborn screening becomes routine and accessible in South Africa, molecular autopsies should include testing for inherited metabolic disorders, as it holds potential to save lives.

BACKGROUND: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Antepartum obstetric conditions, may, in turn, lead to hypoxic-ischemic damage to the fetus and the newborn, often underlying PA. Herein, a case of PA that hid and triggered signs and symptoms of Glutaric Aciduria type I (GA-I), is reported.
METHODS: R.F. was born at term after prolonged labour, by induced vaginal delivery with the Kristeller manoeuvre. He presented with severe asphyxia and asystoly. Immediate cardiopulmonary resuscitation promptly restored cardiorespiratory parameters, allowing for early extubation 30 min after. During the following hours, severe axial muscle hypotonia with an increased tone of the limb extensor muscles became evident. The absence of crying and archaic reflexes persisted and there was an onset of generalized tonic or clonic seizure. First level metabolic and inflammatory markers were within the normal range. An inherited metabolic disease was then suspected, due to the persistent clinical signs of severe neurological damage without any detectable septic parameter. GA-I was assessed and specific treatment started without any clinical improvement, although ensuring adequate growth and metabolic control. Thereafter, the baby developed a severe encephalopathy with drug resistant epileptic seizures. The progression of the neurological damage and a CVC-related sepsis led him to exitus at 2 years.
CONCLUSIONS: To the best of our knowledge, this is the first case of early post-natal onset of GA-I reported in literature to date, in the absence of expanded newborn screening (NBS) programme. As expanded NBS programmes for inborn errors of metabolism have not yet been internationally adopted, we are of the opinion that such diseases may well be hidden by misleading signs and symptoms imputable to other more frequent harmful clinical conditions. Moreover, it would be advisable that neonatologists be trained to include GA-I in the differential diagnosis of neurological damage secondary to PA.

BACKGROUND: Glutaric acidemia type I (GA-I) is a rare metabolic disorder caused by mutation of the glutaryl- CoA dehydrogenase (GCDH) gene. The occurrence of rhabdomyolysis with GA-I is extremely rare.
METHODS: We reported a child with recurrent rhabdomyolysis and undiagnosed glutaric acidemia type I (GA-I). And a literature review was performed.
RESULTS: A 4.5-year-old girl was admitted to our hospital due to recurrent rhabdomyolysis for 3 times within three years. At the third admission, she was diagnosed with GA-I by biochemical testing and mutation analysis. The girl was found to have a serine to leucine replacement mutation of the GCDH gene in exon 8 at position 764. Other three patients with rhabdomyolysis and GA-I were discovered by literature searching.
CONCLUSIONS: This report highlights that patients with GA-I may have an increased risk of rhabdomyolysis.

Glutaric aciduria type-1 (GA-1) is a disorder of amino acid metabolism. The usual clinical-onset is an acute encephalopathic crisis in early childhood. There are only a few cases diagnosed in older age groups. MRI features of the disease are well defined. However, there are limited number of studies concerning advanced neuroimaging findings. We present DWI and MRS findings of an 11 year-old GA-1 patient admitted with an encephalopathic crisis. Diffusion restrictions in bilateral basal ganglia, corpus callosum and periventricular deep white matter were observed. In left occipital periventricular white matter and left basal ganglia, mild increased Cho/Cr and MI/Cr ratios and decreased NAA/Cr ratio were detected. Also inverted double lactate peak (TE: 135 ms) was present at 1.33 ppm in the left basal ganglia. In addition to these findings, a peak at 1.56 ppm above the baseline was seen on both short and long echo-time MRS in left occipital lobe deep white matter which may show accumulation of degradation products of amino acids in the GCDH enzyme deficiency.

Glutaric aciduria type I is a rare metabolic disorder caused by deficiency of glutaryl-coenzyme A dehydrogenase. Chronic subdural hematomas have been reported in glutaric aciduria type I and are considered as important differential diagnosis of nonaccidental head trauma. However, chronic subdural hematomas are usually thought to remain clinically silent in these patients. Here we report on a hitherto asymptomatic glutaric aciduria type I patient who developed severe, acute subdural hemorrhage after minor accidental head injury at age 23 months. Computed tomography confirmed significant mass effect on the brain necessitating decompressive hemicraniectomy. Subdural hemorrhage caused large hypoxic lesions of the cerebral cortex and subcortical regions resulting in spastic tetraplegia, dystonia, and loss of developmental milestones. This report emphasizes that acute subdural hemorrhage may be a life-threatening complication in glutaric aciduria type I patients after minor head trauma and should be considered in those patients presenting with neurologic deterioration after accidental head injury.

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