RESUMEN
We report here a 2.5-year-old male child with community-acquired Pseudomonal sepsis showing the characteristic lesions of ecthyma gangrenosum. The child had development of gangrenous changes of the nose and face - the 'cancrum oris' or 'Noma'. We highlight the possible association of Pseudomonas sepsis and Noma, with malnutrition playing a central role in causing both the diseases.
Asunto(s)
Trastornos de la Nutrición del Niño/complicaciones , Preescolar , Humanos , Masculino , Noma/complicaciones , Infecciones por Pseudomonas/complicaciones , Sepsis/complicacionesRESUMEN
Colloid cyst is a rare benign intracranial neoplasm, commonly located in the third ventricle. Though headache and visual symptoms are classical, the patients may present with sudden neurological deterioration. We present a ten-year-old male child who presented with sudden neurological deterioration due to colloid cyst of the third ventricle resulting in death. The child had intermittent headache for three months, for which medical attention was not sought. This report details the case and a short review of the condition is presented (with emphasis on the clinical features and importance of early diagnosis). Management (including surgical methods and conservative treatment) of third ventricle colloid cysts is briefly reviewed.
Asunto(s)
Adulto , Encefalopatías/complicaciones , Ventrículos Cerebrales , Quistes/complicaciones , Diagnóstico Diferencial , Resultado Fatal , Cefalea/etiología , Humanos , MasculinoRESUMEN
Intrahepatic biliary cysts are rarely seen in the patients with biliary atresia. We describe a ten-month-old child with biliary atresia in whom the abdominal imaging studies (ultrasonography, computed tomographic scan and magnetic resonance cholangiopancreatography) revealed multiple intrahepatic biliary cysts ('bile lakes'). The child also had intrapulmonary shunting of blood due to pulmonary arteriovenous fistulae, which were demonstrated on contrast-enhanced echocardiography. Both these findings, 'bile lakes' and pulmonary arteriovenous fistulae occur rarely in biliary atresia.
Asunto(s)
Abdomen/diagnóstico por imagen , Fístula Arteriovenosa/complicaciones , Atresia Biliar/complicaciones , Enfermedad de Caroli/diagnóstico , Colestasis/complicaciones , Diagnóstico Diferencial , Ecocardiografía , Humanos , Lactante , Masculino , Arteria Pulmonar/anomalías , Radiografía AbdominalAsunto(s)
Distribución por Edad , Niño , Preescolar , Comorbilidad , Cardiopatías Congénitas/diagnóstico , Humanos , India/epidemiología , Lactante , Masculino , Prevalencia , Pronóstico , Estudios Retrospectivos , Fiebre Reumática/diagnóstico , Cardiopatía Reumática/diagnóstico , Medición de Riesgo , MuestreoRESUMEN
Infantile tremor syndrome is characterized by coarse tremors, mental and physical retardation, light colored brown hair, skin pigmentation and anemia. Amongst the theories proposed for the etilogy of the disorder, the nutritional theory is most accepted. In this case report, we have presented a fourteen-month-old male child with ITS and documented zinc deficiency. Though most of the previous workers have proposed vitamin-B12 deficiency as the etimology for ITS, our report suggests that zinc deficiency could also have a causative role.
Asunto(s)
Humanos , Lactante , Masculino , Síndrome , Temblor/diagnóstico , Zinc/deficienciaRESUMEN
Pulmonary arteriovenous malformations rarely present in childhood. Two cases are presented in this report. Both the cases presented clinically with cyanosis and clubbing without a cardiac murmur. The second case had cerebral abscess in addition. Both the cases underwent a contrast-enhanced echocardiography which suggested the presence of pulmonary arteriovenous malformations. The first case also underwent 99mTc radionuclide scan and pulmonary angiography. The cases are being reported for their characteristic clinical features and for emphasizing the role of non-invasive modalities like contrast-enhanced echocardiography and radionuclide scan in reaching the diagnosis.
Asunto(s)
Angiografía , Malformaciones Arteriovenosas/diagnóstico , Niño , Preescolar , Ecocardiografía , Femenino , Humanos , Arteria Pulmonar/anomalías , Venas Pulmonares/anomalíasRESUMEN
Morgagni hernia is a rare diaphragmatic hernia accounting for only 2% of the congenital diaphragmatic defects. A case of Morgagni hernia was diagnosed radiologically in a 12-months-old male with Down syndrome, with recurrent respiratory distress and chest deformity. The 2-dimensional echocardiography was normal. The diagnosis of Morgagni hernia was confirmed by barium studies. The patient underwent a corrective surgery at 18 months of age following which his symptoms subsided. Literature review revealed only 18 cases of Morgagni hernia with Down syndrome reported till date, with age of presentation varying from neonatal age group to 12 years of age. The mode of presentations varied from asymptomatic detection to severe respiratory distress. The possible mechanism of association and its clinical implication has been discussed. The case emphasises a need for diaphragmatic hernia to be looked for as a possible cause of respiratory distress in Down syndrome.
Asunto(s)
Anomalías Múltiples/diagnóstico , Síndrome de Down , Hernia Diafragmática/complicaciones , Humanos , Lactante , Masculino , Insuficiencia Respiratoria/etiologíaRESUMEN
Glanzmann's thrombasthenia (GT) is an uncommon cause of bleeding in children. We diagnosed two siblings as having GT on the basis of flow cytometric studies. Both had cutaneous bleedings and epistaxis since early childhood. Hematological investigations revealed prolonged bleeding time and a normal platelet count. Both the patients had absence of aggregation of platelets with the agonist adenosine diphosphate. Absence of the GPIIb/IIIa receptor was confirmed by flow cytometry. A short review of the disorder is presented.
Asunto(s)
Preescolar , Diagnóstico Diferencial , Femenino , Citometría de Flujo , Trastornos Hemorrágicos/genética , Humanos , Masculino , Complejo GPIIb-IIIa de Glicoproteína Plaquetaria/genética , Trombastenia/diagnósticoRESUMEN
Autosomal translocations are rare in the patients with ovarian dysgenesis. An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. Karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11. The probable role of autosomal translocations in ovarian dysgenesis has been discussed.
Asunto(s)
Adolescente , Amenorrea/genética , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 11/genética , Femenino , Disgenesia Gonadal/genética , Humanos , Cariotipificación , Ovario/anomalías , Translocación Genética/genéticaRESUMEN
OBJECTIVE: To study clinical features and investigations of children with Krabbe Disease (KD). DESIGN: Retrospective. SETTING: Genetic Clinic of a tertiary care teaching hospital. METHODS: Hospital records of patients with enzymatically confirmed KD were analyzed with respect to their clinical features and investigations including neuroimaging (CT-scan and/or MRI). Galactocerebrosidase (GALC) activity was estimated photometrically in the peripheral blood leukocytes. RESULTS: Nine children (age ranging from 2 1/2 months to 8 years) were studied, of which 5 had the classical infantile disease, 3 had late infantile form and one was diagnosed as juvenile KD. GALC levels in peripheral blood leukocytes were low or absent in all. Most of the children with infantile disease presented with neurodegeneration, seizures or fever. Optic atrophy was uncommon in our series (present only in a single case). Majority of the cases had elevated cerebrospinal fluid (CSF) protein levels and peripheral neuropathy on nerve conduction (NC) studies. Findings typical of KD were noted in 7 patients who underwent magnetic resonance imaging (MRI). The sole patient with juvenile disease presented with developmental delay and progressive spastic quadriparesis. CONCLUSION: Krabbe disease should be considered in the differential diagnosis of early infantile onset of neurodegeneration with seizures. Likewise, older children with progressive ataxia or spastic quadriparesis in whom the etiology remains obscure, must be investigated for Krabbe disease. MRI can be diagnostic in absence of availability of enzyme diagnosis.
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Distribución por Edad , Niño , Preescolar , Países en Desarrollo , Femenino , Humanos , Incidencia , India/epidemiología , Lactante , Leucodistrofia de Células Globoides/diagnóstico , Imagen por Resonancia Magnética/métodos , Masculino , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Distribución por SexoAsunto(s)
Niño , Preescolar , Femenino , Humanos , India/epidemiología , Lactante , Masculino , Estudios Retrospectivos , Factores de Riesgo , Tétanos/complicaciones , Resultado del TratamientoRESUMEN
Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.
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Humanos , Lactante , Masculino , Neurofibromatosis/complicaciones , Síndrome de Noonan/complicacionesRESUMEN
AIMS: To determine the incidence, risk factors, mortality and organisms causing nosocomial pneumonia (NP) in intubated patients in Paediatric Intensive Care Unit (PICU). MATERIALS & METHODS: All patients with endotracheal (ET) tube with or without mechanical ventilation (MV) in a PICU of a tertiary care teaching hospital were included in this prospective study. Clinical parameters and investigations were evaluated in patients who developed nosocomial pneumonia (NP). Colonisation of the ET tube tip was studied by culture and the antibiotic susceptibility pattern of the isolates was determined. RESULTS: Sixty-nine patients had an ET tube inserted and fifty-nine of these underwent MV. ET tube tip colonisation was seen in 70 out of 88 ET tubes inserted. The incidence of NP in patients with ET tube was 27.54% (7.96/100 days of ET intubation). NP developed only in patients undergoing MV. The main risk factors for developing NP were - duration of MV and duration of stay in the PICU. Age, sex, immunocompromised status and altered sensorium did not increase the risk of NP. The mortality in cases with NP was 47. 37%. E. coli and Klebsiella were the commonest organisms isolated from the ET tube tip cultures with maximum susceptibility to amikacin and cefotaxime. CONCLUSIONS: NP developed only in patients undergoing MV. Duration of MV and duration of stay in the PICU increased the risk of developing NP.
Asunto(s)
Distribución de Chi-Cuadrado , Niño , Preescolar , Infección Hospitalaria/etiología , Femenino , Humanos , Incidencia , Lactante , Unidades de Cuidado Intensivo Pediátrico , Intubación Intratraqueal/efectos adversos , Tiempo de Internación , Masculino , Pruebas de Sensibilidad Microbiana , Neumonía/etiología , Probabilidad , Respiración Artificial/efectos adversos , Factores de Riesgo , Factores de TiempoRESUMEN
A two and half year-old-male child, known case of steroid responsive nephrotic syndrome presented with fever and vomiting of acute onset. He was diagnosed to have superior sagittal sinus thrombosis on a contrast computerised tomographic scan of brain. Recovery was complete without anticoagulant therapy. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome.