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Introduction: There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20-25% of such cases. Case Description. A 3 years and 11 months old boy with global developmental delay had repetitive behaviors and hyperkinetic movements. He was stunted and underweight. He had ataxia, limb dyskinesia, triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal tip, polydactyly, tappering fingers, and decreased tone in the upper and lower limbs with normal deep tendon reflexes. Magnetic resonance imaging of the brain, ultrasound of the abdomen, and ophthalmological evaluation were normal. Brain evoked response auditory revealed bilateral moderate hearing loss. He fulfilled the Diagnostic Statistical Manual 5 criteria for autism. In the Vineland Social Maturity Scale, his score indicated a severe delay in social functioning. His genetic evaluation included karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). The karyotype report from high-resolution lymphocyte cultures was mos 46, XY, der(3)t(3; 5)(p26; p15.3)[50]/46, XY,der(5) t(3;5) (p26;p15.3)[50].ish. His karyotype report showed a very rare and abnormal mosaic pattern with two cell lines (50% each). Cell-line#1: 3pter deletion with 5pter duplication (3pter-/5pter+) and cell-line#2: 3pter duplication with 5pter deletion (3pter+/5pter-) derived from a de novo reciprocal translocation t(3; 5)(p26; p15.3) which was confirmed by FISH. The chromosomal microarray analysis report was normal. The two cell lines (50% each) seem to have balanced out at the whole genome level. Occupational, sensory integration, and behavior modification therapy were initiated for his autistic features, and anticholinergic trihexiphenidyl was prescribed for hyperkinetic movements. Conclusion: This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.
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INTRODUCTION: Scrub typhus is an acute undifferentiated febrile illness with varied nonspecific manifestations. It dramatically responds to appropriate antibiotic if started earlier in the course of disease leading to significant reduction in morbidities and mortalities. OBJECTIVE: To describe the clinical profile, treatment and prognosis of scrub typhus in children. PATIENTS AND METHODS: Serologically confirmed children with scrub typhus admitted to Tribhuvan University Teaching Hospital (TUTH) over a period of 3 years (April 15, 2015, to April 14, 2018) were retrospectively analyzed for clinical manifestations, investigations, complications and treatment outcomes. FINDINGS: A total of 84 children (39 boys, 45 girls) were found to have serologically confirmed scrub typhus. Apart from fever which was invariably present in all children, the most common symptoms were that of respiratory system such as shortness of breath, gastrointestinal system which were vomiting and abdomen pain followed by headache. On physical examination, the most frequent clinical signs were hepatosplenomegaly, edema, eschar and lymphadenopathy. Hepatitis, myocarditis and meningitis were the most common complications. Most patients had the shortest defervescence of less than 48 hours with oral doxycycline (64.7%) followed by intravenous chloramphenicol (56.7%). The overall mortality rate was 4.8%, all due to multiorgan dysfunction. CONCLUSION: In a country like Nepal, scrub typhus should be suspected in any child who presents with fever associated with shortness of breath, abdomen pain, vomiting, headache and clinical findings suggestive of multisystem involvement such as hepatitis, myocarditis or meningitis. Early empirical medical management based on high clinical suspicion while waiting for definitive serological report with oral doxycycline or intravenous chloramphenicol may prevent complications of scrub typhus thereby reducing mortality.