An 11-month-old boy with psychomotor regression and auto-aggressive behaviour
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An 11-month-old Swiss boy was brought to his paediatrician. He had been in good health and had developed normally until then, but his parents mentioned that over the previous 2 weeks, the child no longer laughed or played, was becoming more and more restless, and slept only 1 to 2 h a night. He was no longer able to crawl and to stand up, and he had lost weight. Clinical examination revealed swollen hands and feet with skin desquamation, axial hypotonia and brisk reflexes. The child sweated profusely, refused to crawl or stand, showed stereotypic movements of the hands (kneading) and repeatedly bit objects or his own hands.
Upon admission to the regional hospital, blood cell count, electrolytes, blood gas analysis, thyroid hormones and cerebrospinal fluid were normal. Liver and kidney parameters were normal, but plasma LDH and CK were increased to 724 U/l (normal <296 U/l) and to 270 U/l (normal <234 U/l), respectively. EEG, chest X-ray film, abdominal sonography,...
KeywordsUric Acid Arterial Hypertension Fabry Disease Coeliac Disease Mercury Intoxication
We are grateful to our colleagues Dr. Bianca Maria Regazzoni and Dr. Vincenzo D'Apuzzo (Mendrisio) as well as to Dr. Gian Paolo Ramelli (Bellinzona) for sharing clinical data and videotapes which were useful in reviewing the case.
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