Long Case with Proff Z

SMM is a 23 month of age malay boy, youngest of 3 siblings from an elderly non consanguinouse parents. His paternal uncle has epilepsy since age 20 years and still at 35+ is on AED.

Currently SMM is admitted for moderate bronchopneumonia, been treated with Ampicillin. He is respoding to antibiotics as evidence by decreasing fever and better chest signs.

SMM has significant underlying problems.

1. Epilepsy which is been started after an episode of meningitis at the age of 5 months. At that time SMM required ventilation for status. He was ventilated for 1 week and required admission for more than a month.
The meningitis was also complicated with blindness and deafness. MRI did not show any paranchymal problem. It showed some lytic lesions at skull bone which was thought to be secondory Langman histiocytosis. CT hunting for primaries at abdomen and pelvis did not catch anything. EEG was told to be normal? Hearing test was normal? Eye examination by ophthalmologiists wasnormal.
Initially he was put on Sodium valporate alone. Since his seizures were not controlled well with VPA and required multiple admissions he was added on Topiramate. After addition of topiramate seizures decreased but still having seizures atleast once in 2 weeks. Seizure seminology is of same type, ie; GTCS. The last admission was 2 months back for increased frequency of seizures. The last seizure was a week back.

2. Early Cerebral Palsy. This developed after the meningitis. He does not have any contractures, no aspiration pneumonia. He is completely dependent on others for dialy activities.

3. Gross developmental delay. SMM's develpmental age hardly corresponds to 5 months. Mother is not very sure of what the child can do before the incidence of meningitis so I can not be really sure that child had some regression in the milestones. Child had some improvemennt after words as he now tries to crawl. There is no eye contact and do not responds to light or voice. He can only produce non meaningful sounds.

4. Failure to thrive. SMM was born FTSVD, B Wt 2.7Kg, no postnatal complications. He was gaining weight well till the episode of meningtis then fall down but currently catching up. How ever all parameters still below thord percentile corresponding to 1 year of age.

5. Gastroesophageal reflux. After meningitis he started having frequent regurgitation after every feed. As the wieght was going down, pantaprazole was started on clinical grounds. There was no evidence for reflux from Ba Swallow.

6. Socially SMM parents are from low socio economic back ground. Father is a van driver earning about RM 4-600 per month. They have another 2 little children with 6 yr and 3 yr of age. While SMM is admitted mother stays in the ward and Father takes care of children at home sacrificing work. When all are at home mother can tackle with other 2 children. The elder child is going to school, now able to read and write the alphabets. They have registered for financial support at the welfare. All his admissions are free of charge but the monthly financial support has not been recieved yet.

DISCUSSION;

How sure are U that this is not a degenerative lesion?
Mother feels there is some improvement after the meningitis. The status of developmental mile stones are not clear from mother.
diseases to consider;

? inherited neurodegenerative disorders
sphingolipidoses, neuronal ceroid lipofuscinoses, adrenoleukodystrophy, and sialidosis.

sphingolipidoses
six categories: Niemann-Pick disease, Gaucher disease, GM1gangliosidosis, GM2gangliosidosis, Krabbe disease, and metachromatic leukodystrophy.

spinocerebellar degenerative diseases (Friedreich ataxia, ataxia-telangiectasia, olivopontocerebellar atrophy, and abetalipoproteinemia)

degenerative disorders of the basal ganglia (Huntington disease, dystonia musculorum deformans, Wilson disease, and Hallervorden-Spatz disease)

miscellaneous group ;Pelizaeus-Merzbacher disease, Alexander disease, Canavan spongy degeneration, kinky hair disease, Rett syndrome, and subacute sclerosing panencephalitis.

(ref; Nelson text book of pediatrics

2. Whats the role of EEG in thispatient
type.
surgery can procede if electrical, clinical seizure correlater together with imagine studies..
Q. whats is the concern in the medications in this regard?
epilim can also cause hepatitis, where we also suspect metabolic disease that can aggreviate hepatitis.

3. whatis the management plan?
physiotherapy - preventing contractures for nursing care; splints;
mouth exercise for growth of mouth preventing over crowding of teeth.