Infantile spasms: clinical profile and treatment outcomes

Background and Objective: Infantile spasm [IS] is one of the severe epileptic encephalopathies which affect children in early two years of life. Our objective was to determine the clinical profile, etiology and outcome of treatment in children with infantile spasms attending tertiary care hospital at Karachi, Pakistan

Methods: This is retrospective study of 36 patients out of 94 registered as IS, aged three months to two years, managed and followed up at Aga Khan University Hospital, Karachi, from 2010 to 2015. Data of all children with IS was collected from case record. Details including clinical observations, lab investigations, anti-epileptic medications and treatment outcome was collected and analyzed. Patients who received treatment for six weeks to document response were included. The treatment response was categorized as complete response, partial response [>50% improvement] and no response. Data was analyzed on SPSS using descriptive statistics

Results: Thirty-six patients [38.29%] with IS fulfilled eligibility criteria. The mean +/- SD age at presentation was 4.6 +/- 2.1 months. Male to female ratio was 2:1. Consanguinity and developmental motor delay was observed in 66.6% and 89% respectively. Symptomatic etiology was predominant [61%] and hypoxic ischemic insult [32%] was the commonest underlying cause. EEG and MRI were diagnostic tools whereas metabolic studies were not helpful. Multiple antiepileptic drugs were used for seizure control and vigabatrin was the most frequently used [88%] drug. Short term treatment response was not different in idiopathic or symptomatic infantile spasms

Conclusion: Majority of patients had symptomatic infantile spasms and generalized tonic clonic along with myoclonic jerks were predominant seizure types. EEG and MRI were diagnostic in most of cases. Multiple AEDs were required to control seizures and VGB was most common drug [88%] used. Treatment outcome was not different in idiopathic and symptomatic groups

Subacute sclerosing panencephalitis: clinical and demographic characteristics

To determine the clinical and demographic characteristics of children diagnosed with Subacute sclerosing panencephalitis [SSPE]. Case series. The Aga Khan University Hospital, Karachi, from January 2000 to June 2012. A retrospective analysis was done, regarding medical charts of 43 children under the age of 16 years with a discharge diagnosis of SSPE. Demographic and clinical characteristics were recorded. Results were expressed as percentages. Most of the 43 patients were male [72%]. The average age at presentation was 8.7 years with average duration of symptoms being 100.6 days. History of measles was present in 17 patients [39.5%]. All children had seizures at presentation and 65% had cognitive impairment. Most patients required poly therapy for control of seizures. Sodium valproate was the most commonly used anti-epileptic agent; Isoprinosine was tried in 22 [51%] patients. CSF for antimeasles antibodies was positive in approximately 86% of the 40 [93%] children. EEG showed burst suppression pattern in 36 [83.7%] cases. Forty-two patients [97.6%] were discharged home in a vegetative state. SSPE is progressive neurodegenerative disorder. It can be prevented by timely immunization against measles. Measles antibody in the CSF is diagnostic for SSPE and is helpful in early diagnosis. Most patients experience a gradual but progressive decline in motor and cognitive functions

unusual presentation of neurononopathic Gauchers disease

A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities. The clinical and bone marrow findings were consistent with Gaucher's disease type 3

Acute transverse myelitis in children

A case of Acute Transverse Myelitis [ATM] is presented. ATM is a rare disease in childhood. The diagnosis stems from the clinical presentation, cerebrospinal fluid findings, appearance of the spinal cord on imaging and ruling out differential diagnoses like Guillain-Barre syndrome [GBS] and Poliomyelitis. The proposed treatment is intravenous [IV] methyl prednisolone with variable chances of recovery. A controlled multicenter study is suggested to assess epidemiology, etiology and prognosis of ATM