Kawasaki disease malingering as juvenile dermatomyositis: case-based review : Myositis in Kawasaki disease.

Kawasaki disease (KD) is a medium vessel vasculitis that predominantly affects children below 5. Diagnosis of KD is based on the presence of characteristic clinical manifestations as there are no definite diagnostic laboratory investigations for the diagnosis of this disease. Presence of atypical clinical features such as myositis often pose diagnostic challenge for the treating physicians. Presence of myositis and severe muscular weakness in KD is distinctly unusual and may lead to delays in diagnosis and administration of definite therapy. We report a 10-year-old boy who presented with fever, rash and proximal muscle and pharyngeal weakness. A clinical possibility of toxic shock syndrome or juvenile dermatomyositis was initially considered. However, he continued to have fever and developed periungual peeling of skin in fingers. Hence, a possibility of KD with myositis was considered. He showed prompt response to intravenous immunoglobulin and methylprednisolone. We also provide a review of similarly reported cases of KD myositis. It is important for clinicians to be aware of this atypical clinical presentation to avoid delays in diagnosis and treatment of KD.

Neuropathological findings in a 17-month-old boy with kinky hair due to Menkes disease.

Menkes disease is a neurodegenerative metabolic disorder. It is an X-lined recessive disorder of copper metabolism. It is characterized by seizures, developmental delay with loss of achieved milestones, along with skin and hair changes. We present such a genetically proven case of Menkes disease in a 17-month-old boy with seizures, cyanosis, and dyspnea. On evaluation, the child had low serum copper and ceruloplasmin. Magnetic resonance imaging revealed diffuse atrophy of the cerebrum, cerebellum with tortuosity of intracranial vessels. Autopsy confirmed the imaging findings along with dense gliosis, myelin loss, and significant loss of neurons in the cortex. Cerebellum showed aberrant dendritic arborization, somal sprouts, and axonal torpedoes within the Purkinje neurons. This report illustrates the classical presentation of in a genetically proven case of Menkes disease at autopsy, which has not been described in the recent literature.

Comparative efficacy of early morning versus bedtime administration of levothyroxine in children with hypothyroidism: a prospective, open label, randomized, case-control study.

INTRODUCTION: Studies in adults with hypothyroidism suggest an equal efficacy of bedtime versus early morning intake of levothyroxine. There is limited data on timing of levothyroxine administration in children. MATERIAL AND METHODS: Children with hypothyroidism on early morning levothyroxine, and clinically and biochemically euthyroid, were assigned to receive levothyroxine at bedtime (group A) or were continued on early morning levothyroxine intake (group B). Clinical, anthropometric and laboratory evaluation (thyroid and lipid profiles, liver enzymes and creatinine) was done at baseline, and at 3 and 6 months. RESULTS: Eighty-four children, 42 in each group, completed the study. The clinical and anthropometric parameters remained similar in the two groups at baseline and at 3- and 6-month follow-up visits. There was no difference in the mean serum concentrations of triiodothyronine, thyroxine and thyrotropin at the 3 time-points in the study. In addition, mean serum aspartate transaminase, alanine transaminase, creatinine and parameters of lipid profiles remained similar in the two groups. The requirement of levothyroxine was similar at baseline (48.6 ±16.9 µg vs. 49.6 ±19.5 µg, p-value 0.80) and at the endpoint (48.3 ±17.2 µg vs. 51.9 ±18.0 µg, p-value 0.46) in both groups. At the study end, 25 (60%) patients in group A and 17 (40%) in group B preferred bedtime dosing of levothyroxine. CONCLUSIONS: We found an equal efficacy of bedtime intake compared to early morning intake of levothyroxine in maintaining an euthyroid state in children with hypothyroidism. Further studies are required to see if bedtime levothyroxine administration improves the quality of life of patients.