Epilepsy Outcome at Four Years in a Randomized Clinical Trial Comparing Oral Prednisolone and Intramuscular ACTH in West Syndrome.

BACKGROUND: This article explores the role of initial treatment on control of spasms and other epilepsies at four years in children previously treated for West syndrome. METHODS: The Sri Lanka Infantile Spasm Study is a prospective clinical trial evaluating response to intra-muscular adrenocorticotropic hormone (ACTH) versus oral prednisolone. A previous report documented response through age 12 months. This article provides four-year follow-up data. RESULTS: At age four years, 65 of the original 97 were available for follow-up; another 13 had died, and 19 moved and could not be contacted. Of the 65 children, 37 (57%) continued to have seizures and 28 were seizure free. In the 37 children with ongoing epilepsy, 32.4% continued to have spasms, either alone or in combination with other seizure types. The epilepsy types seen in these children were focal epilepsy (59.4%), mixed focal and generalized epilepsy (24%), generalized epilepsy only (10.8%), and uncertain (5%). The majority of those still having epilepsy (66.7%) were controlled on medication. There was no significant difference in the rate of epilepsy or spasms or their control by medication between those treated with ACTH or oral prednisolone. Spasm control at day 14 did not influence the four-year spasm or epilepsy outcome. CONCLUSIONS: A majority of children diagnosed with West syndrome continued to have seizures at age four years, although most were controlled on antiseizure medication. The long-term risk of developing epilepsy or its control was the same, regardless of whether ACTH or prednisolone was initially used as treatment.

Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.

BACKGROUND: Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith-Lemli-Opitz syndrome presenting with acute adrenal crisis, which is an extremely rare and atypical presentation of this disease. CASE PRESENTATION: A 3-year-old Sri Lankan Sinhalese boy without evidence of infection presented with circulatory collapse. He had a normal perinatal period; however, his early infancy was complicated by poor feeding, episodes of loose stools, failure to thrive, and several episodes of unexplained drowsiness. His weight, height, and occipitofrontal circumference were well below the third percentile. He had soft dysmorphic features that included microcephaly, bitemporal narrowing, upward slanting eyes, epicanthal folds, partial ptosis, broad nasal bridge, low set posteriorly rotated ears, high arched palate, and short neck. Marked hyperpigmentation was noted in perioral, buccal, and palmar areas. His pulses were rapid and low in volume and his systolic blood pressure was low. Initial resuscitation was performed by administering multiple crystalloid fluid boluses. A septic screen was negative. His blood glucose and serum bicarbonate levels were low and serum electrolytes revealed hyponatremia with hyperkalemia. Serum spot cortisol level was low normal and 17-hydroxyprogesterone level was low. Diagnosis of Smith-Lemli-Opitz syndrome and associated adrenal crisis was made based on clinical and biochemical features. Intravenously administered hydrocortisone was commenced to which he showed a marked clinical response. CONCLUSIONS: This case describes a rare and atypical presentation of Smith-Lemli-Opitz syndrome and highlights the importance of making early and accurate syndromic diagnoses in children with dysmorphism to avoid sudden and life-threatening complications.