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Posted On : 21 Feb 2013

a 15 month old mulsim male patient born to consanguinuouis marriage was presented with history of recurrent febrile seizures and delayed development.
Convusions-
- with fever
- initially focal tonic clonic then with secondary generalisation
- involving all 4 limbs
pt was on 2 AEDs valproate and Topiramate in adequate dosages.
Birth, History: Full term , Home delievered , Aprrox 2.7 kg , Cried soon , No postnatal problem on day 1.
Past, History: Had history of neonatal seizure on day 3 of life after that was admitted in nicu. blood Glucose , s.calcium, and septic screen were normal. was treated conservatively.
after that from the age of 3 months he had repeated episodes of seizures and was started on valproate and Topiramate by paediatrician treating him.
MRI Brain was normal and EEG was s, o Generalilzed seizure activity.
Family, History: Patient has 2 sibs. one 4 year old female child is healthy and alive, one 45 day old male child is having similiar complaints of seizures and similiar clinical profile.
On examination:
positive findings :
Hypotonia of all 4 limbs
Absent DTR
no microcephaly, no hydrocephalus
no signs of meningeal irritation
all other systems are within normal limits.
his younger sib is having similiar clinical profile as he is having
hypotonia
absent moro
sucking and swallowing reflexes are intact.
no skin sitgmata.
no sign of any neurocutaneous marker.

Maternal TORCH has not been done.
Patients calcium level, thyroid profile is normal.
EMG, NCV has not been done.
MRI brain {epilepsy protocol} and Video EEG is pending.

Expert Answer :

Answer Discussion :

E

Eman samir

0

Allan herndon dudley syndrome

12 years ago

S

Sabri Sakrana

0

Inborn Error of metabolism

12 years ago

Answer 1

The MRI and EEG will give a better idea regarding etiology. However since the child has a sibling with a similar problem, one should rule out a genetic disorder affecting males. Also since the child has hypotonia and absent reflexes, there seems to be an associated muscle problem. Thus one should consider problems such as MERRF, ragged red fibres, MELAS, and lactic acidosis.

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