Answer to Quiz No. 97 dated 26 February 2017
Glutaric aciduria type 1 . It is caused by deficiency of the enzyme glutaryl-CoA dehydrogenase.
Findings
1. Under-operculisation with open 'bat wing' Sylvian fissures and expansion of the subarachnoid spaces along the fronto-temporal convexities 2. Swelling and long TR hyperintensity of bilateral lentiform and caudate nuclei 3. Thin SDH (measures 4.5 mm in maximum thickness) along the left frontal-parietal and temporal convexity
Discussion
Glutaric aciduria type 1 is a leukodystrophy that can be subclassified as an organic acidopathy. Imaging has an important role to play as the MRI features can be characteristic. The condition is Inherited in an autosomal recessive manner. Clinical presentation: Neonate or infants presents with developing macrocephaly and acute febrile illness Later due to involvment of basal ganglia, extrapyramidal symptoms develope. Pathology: Due to an inherited deficiency of the enzyme glutaryl-CoA dehydrogenase. Imaging: MRI is the modality of choice. Basal ganglia: Initial swelling and later atrophy as well as necrosis Other gray matter structures can be affected e.g. the substantia nigra and the dentate nuclei as seen in this case. Other features include macrocephaly, expansion of subarachnoid convexity spaces, and wide CSF spaces anterior to the temporal poles and in the Sylvian fissures. With the expansion of convexity subarachnoid spaces, the coursing bridging veins are susceptible to rupture with only minor trauma, and these patients may present with subdural haemorrhages. In this context it should not be mistaken as non accidental trauma.
References
1. Kölker S, Christensen E, Leonard JV et-al. Diagnosis and management of glutaric aciduria type I--revised recommendations. J. Inherit. Metab. Dis. 2011;34 (3): 677-94. 2. Lindner M, Kölker S, Schulze A et-al. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 2004;27 (6): 851-9. 3. Harting I, Neumaier-probst E, Seitz A et-al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 2009;132 (Pt): 1764-82.
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1. Kölker S, Christensen E, Leonard JV et-al. Diagnosis and management of glutaric aciduria type I--revised recommendations. J. Inherit. Metab. Dis. 2011;34 (3): 677-94. 2. Lindner M, Kölker S, Schulze A et-al. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 2004;27 (6): 851-9. 3. Harting I, Neumaier-probst E, Seitz A et-al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 2009;132 (Pt): 1764-82.
Findings
1. Under-operculisation with open 'bat wing' Sylvian fissures and expansion of the subarachnoid spaces along the fronto-temporal convexities 2. Swelling and long TR hyperintensity of bilateral lentiform and caudate nuclei 3. Thin SDH (measures 4.5 mm in maximum thickness) along the left frontal-parietal and temporal convexity
Discussion
Glutaric aciduria type 1 is a leukodystrophy that can be subclassified as an organic acidopathy. Imaging has an important role to play as the MRI features can be characteristic. The condition is Inherited in an autosomal recessive manner. Clinical presentation: Neonate or infants presents with developing macrocephaly and acute febrile illness Later due to involvment of basal ganglia, extrapyramidal symptoms develope. Pathology: Due to an inherited deficiency of the enzyme glutaryl-CoA dehydrogenase. Imaging: MRI is the modality of choice. Basal ganglia: Initial swelling and later atrophy as well as necrosis Other gray matter structures can be affected e.g. the substantia nigra and the dentate nuclei as seen in this case. Other features include macrocephaly, expansion of subarachnoid convexity spaces, and wide CSF spaces anterior to the temporal poles and in the Sylvian fissures. With the expansion of convexity subarachnoid spaces, the coursing bridging veins are susceptible to rupture with only minor trauma, and these patients may present with subdural haemorrhages. In this context it should not be mistaken as non accidental trauma.
References
1. Kölker S, Christensen E, Leonard JV et-al. Diagnosis and management of glutaric aciduria type I--revised recommendations. J. Inherit. Metab. Dis. 2011;34 (3): 677-94. 2. Lindner M, Kölker S, Schulze A et-al. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 2004;27 (6): 851-9. 3. Harting I, Neumaier-probst E, Seitz A et-al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 2009;132 (Pt): 1764-82.
Upload movie clips if available
1. Kölker S, Christensen E, Leonard JV et-al. Diagnosis and management of glutaric aciduria type I--revised recommendations. J. Inherit. Metab. Dis. 2011;34 (3): 677-94. 2. Lindner M, Kölker S, Schulze A et-al. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 2004;27 (6): 851-9. 3. Harting I, Neumaier-probst E, Seitz A et-al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 2009;132 (Pt): 1764-82.
