RESUMEN
Fanconi Anaemia is an autosomal recessive disorder, which is characterised by progressive pancytopenia, café au lait spots (>50%), bruising, petechie, recurrent infections, short height (50%), and thumb and radial bone anomalies (40%). Herein, is presented a case of a lean emaciated female child, who presented with the chief complaints of fever, loose stools and decreased appetite for one month reported at Sindh Government General Hospital, Karachi, on February, 1, 2023. She had cutaneous findings of hyperpigmentation and café au lait spots and a tri-phalangeal thumb. On investigation, pancytopenia and a low reticulocyte count of 0.7% was also observed. Karyotype and chromosomal breakage test induced by Diepoxybutane confirmed her as a case of Fanconi Anaemia.
Asunto(s)
Manchas Café con Leche , Anemia de Fanconi , Humanos , Femenino , Anemia de Fanconi/complicaciones , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/genética , Manchas Café con Leche/genética , Rotura Cromosómica , Compuestos EpoxiRESUMEN
Omphalitis is a mild medical condition that can turn severe in exceptional situations leading to necrotising fasciitis. The most common cause of omphalitis is umbilical vein catheterisation (UVC) where the cleanliness measures can be compromised. The treatment options for omphalitis include antibiotics, debridement and supportive care. Sadly, the fatality rate in such cases is high. This report is about a premature female baby who was admitted to a neonatal intensive care unit after her birth at 34 weeks of gestation. UVC was performed on her which led to abnormal changes in the skin around her umbilicus. Further tests revealed that she had omphalitis and was treated with antibiotics and supportive care. Unfortunately, her condition quickly worsened and she was diagnosed with necrotising fasciitis which ultimately resulted in her death. This report provides details about the patient's symptoms, course of illness and treatment for necrotising fasciitis.
Asunto(s)
Fascitis Necrotizante , Enfermedades del Recién Nacido , Enfermedades de la Piel , Infecciones de los Tejidos Blandos , Recién Nacido , Humanos , Femenino , Fascitis Necrotizante/etiología , Fascitis Necrotizante/terapia , Fascitis Necrotizante/diagnóstico , Inflamación/complicaciones , Infecciones de los Tejidos Blandos/tratamiento farmacológico , Recien Nacido Prematuro , Enfermedades de la Piel/complicaciones , Antibacterianos/uso terapéutico , Enfermedades del Recién Nacido/tratamiento farmacológico , Desbridamiento/métodosRESUMEN
Hypoparathyroidism occurs due to insufficient parathyroid gland activity leading to abnormal calcium and phosphate levels. The presentation of hypoparathyroidism is rare in adults and mostly encountered in the paediatric population. We present a case of a 3.5-month-old male infant with the presenting complaint of an episode of afebrile generalized tonic-clonic seizure. Haematological, urinary, cerebro-spinal fluid and radiological investigations were unremarkable but a biochemical profile revealed hypocalcaemia, hyperphosphataemia and lowered vitamin D3 levels. Parathyroid hormone profile showed a decreased level, confirming diagnosis of hypoparathyroidism. Intravenous administration of calcium and magnesium in combination with oral activated vitamin D3 and phosphate binders managed to resolve symptoms and maintain normal levels. The rationale of this case is to confirm the necessity of early diagnosis to prevent irreversible sequelae of hypocalcaemia and regular monitoring of treatment to avoid side-effects of medication.