ABSTRACT
Bilateral anotia or microtia is known to be associated with multiple order malformations. The authors report a young infant who presented with failure to thrive and recurrent respiratory tract infections.The patient had bilaterally absent pinnae; instead small skin tags were present. He also had asymmetric crying facies and clinical evidence of hypothyroidism in the form of hoarse voice, constipation and generalized hypotonia. Thyroid function tests confirmed the diagnosis of hypothyroidism.
Subject(s)
Ear, External/abnormalities , Humans , Hypothyroidism/complications , Infant , Male , Thyroid Function TestsABSTRACT
The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.
Subject(s)
Coffin-Lowry Syndrome , Genetic Counseling , Humans , Infant , MaleABSTRACT
Candida tropicalis is a rare species of Candida causing meningitis. The authors report a young infant who developed Candida tropicalis meningitis following a prolonged stay in a neonatal intensive care unit for respiratory distress and intra-cranial hemorrhage. The child was successfully treated with recommended doses of Amphotericin B and 5-flucytosine for eight weeks.
Subject(s)
Amphotericin B/therapeutic use , Antifungal Agents/therapeutic use , Candida tropicalis , Candidiasis/microbiology , Cross Infection/drug therapy , Drug Therapy, Combination , Flucytosine/therapeutic use , Humans , Infant, Newborn , Intensive Care Units, Neonatal , Male , Meningitis, Fungal/diagnosisABSTRACT
A five and half-year-old boy with arthritis involving large joints is reported. The child was found to be seropositive for HIV. Various rheumatological manifestations have been described in adults with HIV infection. To the best of our knowledge, this is the first report of HIV infection presenting as arthritis in pediatric age group in Indian literature.