RESUMEN
A 3-year-old girl with Rett syndrome is reported in this case report. The aim of this report is to highlight the clinical features of this rare neurodegenerative disorder that mainly affects young girls. A brief review of literature of this disorder is included.
Asunto(s)
Preescolar , Femenino , Apraxia de la Marcha/diagnóstico , Gestos , Mano , Humanos , Examen Físico , Síndrome de Rett/diagnósticoRESUMEN
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.
Asunto(s)
Oído Externo/anomalías , Humanos , Hipotiroidismo/complicaciones , Lactante , Masculino , Pruebas de Función de la TiroidesRESUMEN
A five and half year-old boy presented with an acute febrile illness associated with abdominal pain, generalised myalgia, arthralgia and skin rash. An elder sibling had a similar illness and had expired three days back. Initially crystalline penicillin and chloramphenicol were started. Investigations to diagnose the cause of fever viz, peripheral blood smear for malarial parasite, blood and urine cultures, Widal test and dot-ELISA for leptospirosis were negative. Weil-Felix test revealed a positive OX-2 titre of 1:100. Retrospectively, a history of close contact with dogs was elicited and a tick bite mark on the hand detected. Within five days of antibiotic therapy the fever resolved. Chloramphenicol was given totally for two weeks and the child recovered fully. Rickettsial infection should be considered in a child presenting with an acute febrile illness with skin rash since the response to specific antimicrobial therapy is dramatic and life saving.
Asunto(s)
Antibacterianos/uso terapéutico , Fiebre Botonosa/diagnóstico , Preescolar , Cloranfenicol/uso terapéutico , Diagnóstico Diferencial , Humanos , MasculinoRESUMEN
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.
Asunto(s)
Síndrome de Coffin-Lowry , Asesoramiento Genético , Humanos , Lactante , MasculinoRESUMEN
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.
Asunto(s)
Anfotericina B/uso terapéutico , Antifúngicos/uso terapéutico , Candida tropicalis , Candidiasis/microbiología , Infección Hospitalaria/tratamiento farmacológico , Quimioterapia Combinada , Flucitosina/uso terapéutico , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Masculino , Meningitis Fúngica/diagnósticoRESUMEN
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.