A child with long standing epilepsy and acute dystonia.

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A child with long standing epilepsy and acute dystonia.

Author: Pediatric Oncall

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A 7 year old boy born of non-consanguineous marriage presented with fever 4 days back, generalized tonic clonic convulsion 3 days back and left sided dystonia in the upper limb since 3 days. The dystonia disappears in sleep. The child is a known case of seizure disorder and had first convulsion at the age of 6 months following DPT vaccine. Subsequently the child has had convulsions every month till 6 years of age and has been treated with multiple anticonvulsants. The child is off treatment since 1 year and also has been convulsion free since 1 year. An EEG done at the age of 9 months was suggestive of modified Hypsarrhythmias. He also has history of measles 3 months back. There is no cranial nerve or bladder, bowel involvement.

He was a full term normal delivery. Was admitted in the NICU for refractory hypoglycemia and seizures. CT brain done at that time showed bilateral hypodensities in the occipital lobe suggestive of hypoglycemic insults. He has delayed motor milestones and achieved sitting at 1½ years, standing at 2 years and walking at 2½ years. He has now achieved milestones upto his age. However, his handwriting has deteriorated in the last 6-9 months.

On examination, his vital parameters were normal. There were no neurocutaneous markers and general examination was normal. CNS examination revealed left upper motor neuron facial palsy, dystonic posture in left upper limb with normal power and deep tendon reflexes and left extensor planters. There was no meningeal sign and other system was normal.

MRI brain showed hyperintensities in right fronto-parieto-temperocortical and subcortical region suggestive of :

? Rasmussen’s encephalitis
? Post ADEM
? Post status epilepticus
? Secondary to intra cerebral artery vasculitis.

• KF ring was negative
• HIV ELISA – negative
• EEG – Partialis epilepsia continua.

The child was treated with valproate and pacitane but had no marked improvement.

What is the diagnosis?

Answer Discussion :

J

jagdishkoti

0

previous hypoglycemic brain injuery with super added viral encephalities

17 years ago

B

BRAJANARAYAN MOHAPATRA

0

Rasmussen's encephalitis

17 years ago

View More Comments

Answer 1

There are 11 glycogen diseases {GSD}, nine of which are associated with myopathy. Most of these glycogen storage myopathies are associated with dynamic symptoms and signs in that the major neuromuscular complaints are exercise-induced muscle pain, cramps, and myoglobinura {e.g., GSD V or McArdle`s disease associated with myophosphorylase deficiency}. The other types of glycogen storage myopathies are considered static in that they are associated with fixed weakness rather than dynamic symptoms and signs. The static glycogen storage myopathies include: GSD I or Pompe`s disease {acid maltase or {-glucosidase deficiency}, GSD II or Cori-Forbes disease {debranching enzyme deficiency}, and GSD IV or Andersen`s disease {branching enzyme deficiency}.

Since this child does not have organomegaly, the static myopathy of GSD seems to be ruled out. The manifestation is not dynamic and thus predominantly myopathic GSD is also unlikely.

In this child, he was proven to have DMD by FISH

A child with long standing epilepsy and acute dystonia.

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