Ibrahim S H, Vajsar J, Jay V.
Myopathy with Allgrove Syndrome.
J Pak Med Assoc Jan ;53(12):619-20.

Nine and a half years old boy presented with one and a half-year history of increasing skin pigmentation, dysphagia, and progressive neurological deterioration which was associated with abnormal gait, clumsiness and decreased cognitive function. Hyper pigmentation started one and half years ago and involved mainly the lips, gums, knuckles, elbows and pressure areas. This was associated with weight loss and lethargy for 2 years. There was no history of salt craving. He also had difficulty in swallowing for 2 years but no documented aspirations or pneumonias. He never had tears on crying and sweating was reduced. There was no history of sensory impairment except occasional abdominal pain, no history of seizures. Occasional bedwetting was present. He had a normal antenatal course and was born full term with no complications. His family history was significant as it was a consanguineous marriage. There was one maternal uncle who also had Achalasia. Developmentally he was delayed in all his milestones. Cognitively he was 1-3 years behind his peers. He was repeating grade 3. He was able to walk but preferred to hold hands and held on to rails whilst climbing stairs. He also had difficulty getting up from the squatting position. Speech was also unclear. On examination he was a slim boy with a weight of 29 kg (25th Gentile) height of 138 cm (75th Gentile) and head circumference of 49cms (<5th Gentile). Hyper pigmentation was noted on the lips and distal extremities with dry skin (hyperkeratosis). No alopecia or vitiligo was noted. Thyroid gland was not enlarged. Cardiovascular, respiratory and abdominal examination was normal. CNS examination showed speech to be slightly immature and he was markedly slow cognitively. He was thinly built and his power in all the muscles on the MRC scale was grade 4 and plantars were bilaterally up going. Sensory examination was difficult but vibration was decreased distally. Gait was spastic and ataxia was present. In view of his symptoms he was suspected as having, Achalasia and Adrenal insufficiency. Adrenal antibodies were negative. However cortisol levels were low and ACTH stimulation did not increase cortisol levels. CK and LDH were elevated. Continued ….

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