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|Year : 2017 | Volume
| Issue : 3 | Page : 669-670
Microcephaly with generalized dystonia: Exception to the rule
Lokesh Saini1, Biswaroop Chakrabarty1, Atin Kumar2, Sheffali Gulati1
1 Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
2 Department of Radio Diagnosis, Jai Prakash Narayan Apex Trauma Centre, All India Institute of Medical Sciences, New Delhi, India
|Date of Web Publication||9-May-2017|
Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Saini L, Chakrabarty B, Kumar A, Gulati S. Microcephaly with generalized dystonia: Exception to the rule. Neurol India 2017;65:669-70
A premorbidly normal, 10-month old boy, born to a third-degree consanguineous couple, presented with subacute onset regression of milestones, preceded by a short febrile illness 2 weeks back. Salient examination findings were microcephaly and generalized dystonias.
The child was diagnosed with glutaricaciduria 1 (GA1) on the basis of neuroimaging findings [Figure 1]a and [Figure 1]b, with urinary gas chromatography mass spectroscopy (GCMS) revealing marked excretion of glutaric and 3-hydroxyglutaric acid. Subsequently, he was started on protein restricted diet, riboflavin (100 mg/day), and carnitine (100 mg/kg/day).
|Figure 1: MRI brain T1 (a) and T2 (b) weighted images reveal bilateral frontotemporal atrophy (a and b) and bilateral hyperintense, swollen striatum, and globus pallidus (b)|
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Classically, children affected with GA1 are brought to medical attention in the second half of infancy with increasing head size. They usually present with an episode of acute encephalopathy following infection such as acute gastroenteritis. Extrapyramidal symptoms usually appear when they recover from the acute encephalopathy stage, as in the current case.
In relevant clinical settings, a large head with prominent frontotemporal subdural spaces on neuroimaging (bat wing appearance) should always raise suspicion of GA1, whereas basal ganglia involvement is seen once an episode of metabolic decompensation occurs, as was seen in this case.
The clinicoradiological differential diagnoses include Leigh's disease and organic acidemias. Among organic acidemias, all except GA1 present with normal head size or microcephaly, whereas GA1 usually presents with macrocephaly. The microcephaly in the current patient was presumably caused by severe cerebral atrophy with advanced disease. Both glutaric aciduria and Leigh's disease may have associated white matter signal changes as well.,
Even with those who are identified early and started on appropriate therapy (protein restricted diet, riboflavin, and carnitine supplementation), impaired neurological outcome is seen in upto one-third of the cases.
This entire spectrum of neuroimaging findings should be known to direct appropriate management, genetic testing, and counselling for subsequent pregnancy.
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