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Duchenne Muscular Dystrophy in Children : A Case Report (Duchenne Muscular Dystrophy pada Anak : Laporan Kasus)

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A six year-old Indonesian boy attended the outpatient clinic of the Dr. Soetomo Hospital on May 30, 1995 with the main complaint of weakness manifesting in an awkward gait since 3 years. Growth and development were abnormal. His aunt had a similar illnes; his mother, father, grandmother and grandfather were healthy. Physical examination revealed : a weak boy with a body weight of 14.5 kg and a body height of 110 cm, matching with 5th percentile and 10th percentile respectively, there was a waddling gait along with a lumbar lordosis, the patient had difficulty in rising from the flor known as Gower's sign, there was pseudohypertrohy of the gastrocnemius muscles, the patellar tendon reflex and the achilles reflex were decreased, there was no Babinski's sign, ankle or knee clonus, the mucle tone was decreased, the sensibility was normal. The laboratory examination revealed : the serum electrolyte were normal. The serum creatinine kinase was 3050 IU/L (normal, 15 to 130 IU/L), the serum lactat dehydrogenase was 1030 IU/L (normal, 110 to 224 IU/L). The chest rontgenogram and electrocardiography were normal. The serum creatine kinase from his mother was 305 and the serum creatine kinase from his grandmother was 1050 IU/L. The electromyography disclosed low amplitude potensials without fibrilations and the never coduction velocity was normal. Muscle biopsy and DNA analysis were not done, because of lack of facilities. The karyoytping examination was normal, the IQ was 87. The diagnosis of Duchenne muscular dystrophy was established. The patient was conculted to the Medical Rehabilitation Department for exercises and to maintain ambulation. Prednisone 0.75 mg/kg/day and multivitamine were given. On the 30th day of treatment, the result of serum creatine kinase was 2351 IU/L.

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Buletin Ilmu Kesehatan Anak,24(2)1995:24-33

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: ., 1995

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infant
muscular dystrophy

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