ABSTRACT
In three male infants aged 3, 4.5 and 11 months with tachypnea and feeding problems, the initial supplementary examination revealed no possible cause. The tissue obtained by open lung biopsy showed interstitial pneumonia/pneumonitis. The two youngest patients were treated with hydrochloroquine and prednisone; the youngest died at the age of 18 months. Both the infant who was maintained on hydrochloroquine and the one who did not receive treatment showed a normal respiratory frequency and growth during the following years. Tachypnea is less easily recognised in infants than in older patients. It may be the only early symptom of interstitial pneumonitis. A normal chest X-ray cannot exclude an incipient interstitial pneumonitis as the cause of the tachypnea. A high-resolution CT-scan of the lung parenchyma is necessary in order to detect the disease at an early stage. Histological examination of an open lung biopsy specimen is essential for the specific diagnosis, therapy and prognosis.
Subject(s)
Lung Diseases, Interstitial/complications , Sleep Wake Disorders/etiology , Drug Therapy, Combination , Fatal Outcome , Glucocorticoids/therapeutic use , Humans , Hydroxychloroquine/therapeutic use , Infant , Lung/pathology , Lung Diseases, Interstitial/drug therapy , Male , Prednisone/therapeutic use , Sleep Wake Disorders/diagnosis , Tomography, X-Ray ComputedABSTRACT
Two cases of hypertrichosis cubiti in combination with short stature, facial dysmorphias and retarded development are reported with a review of the literature. Hypertrichosis cubiti, the hairy elbows syndrome, consists of a localized form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally. It can be associated with short stature and other physical abnormalities. The mode of inheritance has not been established yet; an autosomal recessive as well as an autosomal dominant inheritance trait are postulated.
