An infant girl with partial phenylketonuria developed pseudoscleroderma. After six years of follow up, both the neurologic and cutaneous conditions improved under a phenylalanine restricted diet. The probable roles of phenylalanine, tryptophan, tyrosine, and their metabolites may cause both conditions through possible transient hypersensitivity of cutaneous and muscular tissues.
Haemoptysis in otherwise healthy children is an uncommon event. Two cases of massive haemoptysis, subsequently requiring lobectomy, are discussed. In each case, foreign vegetable matter was identified despite previously normal bronchoscopy and minimal changes on chest radiograph.Haemoptysis in children is usually seen in those with bronchiectasis associated with suppurative lung disease and chronic sputum production, and massive haemoptysis in otherwise healthy children is uncommon. There are few reports of massive haemoptysis in recent paediatric literature and we report two cases in otherwise healthy children, both of whom subsequently required lobectomy. In each case, foreign vegetable matter was identified in the excised lobe. CASE ONEA five-year-old boy presented to the emergency department with mild haemoptysis and cough that had been present for 2 days. Physical examination was normal. A chest radiograph showed minimal change with patchy consolidation in both lower lobes. A provisional diagnosis of bronchitis was made and oral augmentin was administrated as an outpatient.Three days later he represented after coughing approximately 50 mL of fresh blood. On initial examination, the patient was pale, and had respiratory distress, as evidenced by tachypnoea with a rate of 36/minute and mild intercostal recession. Coarse inspiratory crackles were present bilaterally. Oxygen saturation (SaOJ was 89% in room air. A full blood count revealed a haemoglobin of 98 g/L and a platelet count of 268 x 109/L. A coagulation profile was normal. A rigid bronchoscopy was performed within 24 h with no abnormality observed and no blood visible.Three weeks later, he represented with two episodes of haemoptysis of approximate 10 mL, associated with coughing. Bi-basal crackles were noted on physical examination. A repeat chest radiograph showed right lower lobe (RLL) infiltrate consistent with pulmonary haemorrhage or atypical infection. No infective cause was found. A sweat test was normal. A computerised tomography (CT) of the thorax showed a
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