RESUMO
Intracranial hemorrhage (ICH) is rarely seen in patients with thalassemia. A seven-year-old male, known case of beta-thalassemia major, on irregular packed cell transfusions (elsewhere) and non-compliant with chelation therapy, presented with congestive cardiac failure (Hb-3 gm/dl). He received three packed red cell transfusions over 7 days (cumulative volume 40 cc/kg). On the 9th day, he developed projectile vomiting and two episodes of generalized tonic-clonic convulsions with altered sensorium. He had exaggerated deep tendon reflexes and extensor plantars. CT-scan of brain revealed bilateral acute frontal hematoma with diffuse subarachnoid hemorrhage (frontal and parietal). Coagulation profile was normal. CT-angiography of brain showed diffuse focal areas of reduced caliber of anterior cerebral, middle cerebral, and basilar and internal carotid arteries (likely to be a spasmodic reaction to subarachnoid hemorrhage). He required mechanical ventilation for 4 days and conservative management for the hemorrhage. However, on the 18th day, he developed one episode of generalized tonic-clonic convulsion and his sensorium deteriorated further (without any new ICH) and required repeat mechanical ventilation for 12 days. On the 28th day, he was noticed to have quadriplegia (while on a ventilator). Nerve conduction study (42nd day) revealed severe motor axonal neuropathy (suggesting critical illness polyneuropathy). He improved with physiotherapy and could sit upright and speak sentences at discharge (59th day). The child recovered completely after 3 months. It is wise not to transfuse more than 20 cc/kg of packed red cell volume during each admission and not more than once in a week (exception being congestive cardiac failure) for thalassemia patients.
Assuntos
Hemorragias Intracranianas/etiologia , Polineuropatias/etiologia , Talassemia beta/complicações , Criança , Humanos , MasculinoRESUMO
Kawasaki disease (KD) is an acute systemic vasculitis of unknown aetiology that has largely replaced rheumatic heart disease as a cause of acquired heart disease in children of many developed countries. We report a case of incomplete KD in a five-year-old girl. The diagnosis of incomplete KD was made after exclusion of conditions with similar presentation. She was treated with intravenous immunoglobulin following which she made an uneventful recovery but demonstrated thrombocytosis in the second week of convalescence. During the six-month follow up period, she had two episodes of recurrent skin peeling a phenomenon, which is recently reported with KD but not with atypical or incomplete KD. It is important for the treating physicians to become aware of the incomplete KD as prompt diagnosis and early treatment of these patients with intravenous immunoglobulin is vital for the prevention of lethal coronary complications. Physicians need to have a "high index of suspicion" for KD and even, higher for IKD.
Assuntos
Síndrome de Linfonodos Mucocutâneos/diagnóstico , Dermatopatias/etiologia , Aspirina/uso terapêutico , Pré-Escolar , Feminino , Fibrinolíticos/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/classificação , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Dermatopatias/tratamento farmacológicoRESUMO
Two cases of arteriovenous malformation (AVM) of the brain presented with primary intraventricular haemorrhage in eleven and thirteen years old children, respectively. The cases responded favourably to therapy with steroids, anti-epileptic drugs and therapeutic embolisation in the former. Though such presentation accounts for 3% of the adult intracranial bleeds secondary to AVM rupture, the same has not been reported in children.
Assuntos
Hemorragia Cerebral/etiologia , Malformações Arteriovenosas Intracranianas/complicações , Adolescente , Criança , Embolização Terapêutica , Humanos , Malformações Arteriovenosas Intracranianas/diagnóstico , Malformações Arteriovenosas Intracranianas/terapia , MasculinoAssuntos
Ossos do Carpo/patologia , Osteólise/patologia , Ossos do Tarso/patologia , Adolescente , Ossos do Carpo/diagnóstico por imagem , Fíbula/patologia , Humanos , Masculino , Osteólise/diagnóstico por imagem , Radiografia , Ossos do Tarso/diagnóstico por imagem , Dente/patologia , Gêmeos MonozigóticosRESUMO
Primary hepatic tumors are uncommon in children and account for only three per cent of the tumors in children. Infantile hemangioendothelioma is a rare benign hepatic tumor arising from mesenchymal tissue. Most of the cases present before six months. An unusual presentation and progression of infantile hemangioendothelioma is reported in a 19-month-old female child. The diagnosis was arrived at by radiological and histopathological examination. The patient underwent excision surgery, following which made an uneventful recovery. On follow-up at six months, patient was asymptomatic with no evidence of recurrence.
Assuntos
Hemangioendotelioma/diagnóstico , Neoplasias Hepáticas/diagnóstico , Feminino , Hemangioendotelioma/diagnóstico por imagem , Hemangioendotelioma/patologia , Hemangioendotelioma/cirurgia , Humanos , Lactente , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/cirurgia , RadiografiaAssuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Aminoácidos de Cadeia Ramificada/sangue , Aminoácidos Dicarboxílicos/sangue , Países em Desenvolvimento , Ácido Láctico/sangue , Lisina/sangue , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/genética , Humanos , Índia , Estudos RetrospectivosAssuntos
Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Astrocitoma/diagnóstico , Astrocitoma/cirurgia , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/cirurgia , Criança , Seguimentos , Humanos , Índia , Masculino , Procedimentos Neurocirúrgicos/métodos , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
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.
Assuntos
Disgenesia Gonadal/genética , Ovário/anormalidades , Translocação Genética/genética , Adolescente , Amenorreia/genética , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 11/genética , Feminino , Humanos , CariotipagemRESUMO
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.
Assuntos
Neurofibromatoses/complicações , Neurofibromatoses/diagnóstico , Síndrome de Noonan/complicações , Síndrome de Noonan/diagnóstico , Humanos , Lactente , MasculinoRESUMO
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.
Assuntos
Leucodistrofia de Células Globoides/diagnóstico , Leucodistrofia de Células Globoides/epidemiologia , Distribuição por Idade , Criança , Pré-Escolar , Países em Desenvolvimento , Feminino , Humanos , Incidência , Índia/epidemiologia , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Distribuição por SexoAssuntos
Coreia/etiologia , Doença de Moyamoya/diagnóstico , Angiografia Cerebral , Criança , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Índia , Imageamento por Ressonância Magnética , Masculino , Doença de Moyamoya/cirurgia , Procedimentos Neurocirúrgicos/métodos , Resultado do TratamentoRESUMO
Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of Heart--Hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review of relevant literature.
Assuntos
Anormalidades Múltiplas , Deformidades Congênitas da Mão/diagnóstico , Cardiopatias Congênitas/diagnóstico , Criança , Humanos , Masculino , Polidactilia/diagnóstico , Síndrome , Anormalidades UrogenitaisRESUMO
AIMS: To study clinical features, pattern of involvement and treatment modalities of Takayasu's arteritis (TA) in children. MATERIAL AND METHODS: Retrospective analysis of hospital records of children admitted over a period of 4.5 years. RESULTS: 17 patients in the age group of 5 to 11 years (M: F = 1.1: 1) were diagnosed to have TA on the basis of Ishikawa's criteria. One child was diagnosed post-mortem. The commonest presenting features were hypertension (64. 7%), congestive cardiac failure (47%), weak or absent peripheral pulses, cardiomyopathy (41.1% each) and cardiac valvular affection (35.2%). Retinopathy, hypertensive encephalopathy and abdominal bruits were uncommon. None presented in the prepulseless phase. No patient had an active tuberculous lesion, although Mantoux or BCG test was positive in 6 (35.2%). The predominant pattern of angiographic affection was Type II (52.9%). Nephrotic syndrome and portal cavernoma seen in one patient each were incidental associations. Anti-hypertensive drugs, oral steroids and drugs to control congestive heart failure were the mainstays of medical management. Antitubercular therapy was started in six patients. Angioplasty was attempted in 15 cases and proved to be partially beneficial in six. Three patients who failed to respond to medical management had to undergo surgical procedures, either bypass, nephrectomy or both. In-hospital mortality was 11.7%. CONCLUSIONS: Patients of TA in this study presented acutely in the pulseless phase, with hypertension and its complications. Type II involvement was the commonest pattern. Anti-hypertensive agents and steroids along with angioplasty were partially successful in controlling symptoms in 35.2%. Surgical procedures were reserved for a minority with poor response to drugs and angioplasty.
Assuntos
Arterite de Takayasu/terapia , Criança , Pré-Escolar , Feminino , Humanos , Índia/epidemiologia , Masculino , Estudos Retrospectivos , Arterite de Takayasu/complicações , Arterite de Takayasu/diagnóstico , Arterite de Takayasu/epidemiologiaAssuntos
Anormalidades Múltiplas , Ictiose , Erros Inatos do Metabolismo Lipídico , Feminino , Humanos , Ictiose/dietoterapia , Ictiose/patologia , Lactente , Erros Inatos do Metabolismo Lipídico/dietoterapia , Erros Inatos do Metabolismo Lipídico/patologia , Fígado/patologia , Masculino , Neutrófilos/patologia , Pele/patologia , Síndrome , Vacúolos/patologiaRESUMO
Enteric fever is a common infectious disease of the tropical world, about 80% of these cases occur in Asian countries. Enteric fever presenting with isolated cerebellar ataxia or nephritis is rare. We report three cases of enteric fever that presented with these complications. Isolated cerebellar ataxia usually occurs in the second week, whereas in our cases it presented within first four days of fever. The common complications of enteric fever related to the urinary tract are cystitis, pyelitis, and pyelonephritis. Glomerulonephritis is uncommon. Most patients with enteric glomerulonephritis present with acute renal failure, hypertensive encephalopathy, or nephritic syndrome. In comparison, our case had milder manifestations. All three patients were treated with parenteral ceftriaxone and showed a prompt recovery.
Assuntos
Ataxia Cerebelar/diagnóstico , Glomerulonefrite/diagnóstico , Febre Tifoide/diagnóstico , Ceftriaxona/administração & dosagem , Criança , Diagnóstico Diferencial , Feminino , Humanos , Índia , Lactente , Febre Tifoide/tratamento farmacológicoAssuntos
Otorreia de Líquido Cefalorraquidiano/etiologia , Cóclea/anormalidades , Surdez/congênito , Orelha Interna/anormalidades , Fístula/congênito , Meningite Meningocócica/etiologia , Órgão Espiral/anormalidades , Pré-Escolar , Surdez/diagnóstico , Surdez/cirurgia , Fístula/diagnóstico , Fístula/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Recidiva , Tomografia Computadorizada por Raios XRESUMO
Penicillin-induced immune haemolytic anaemia is very rare. A ten year-old-female with rheumatic mitral stenosis on benzathine penicillin prophylaxis presented with features of haemolytic anaemia and investigations supported the diagnosis of immune haemolytic anaemia. Patient responded to discontinuation of the drug and therapy with oral prednisolone. This is first such case reported from India.
Assuntos
Anemia Hemolítica/induzido quimicamente , Penicilina G Benzatina/efeitos adversos , Penicilinas/efeitos adversos , Anemia Hemolítica/imunologia , Criança , Feminino , HumanosRESUMO
We report three brothers with Allgrove syndrome. All three had evidence of adrenal insufficiency and deficient tear production, though neither of them had achalasia, the third component of the disorder at the time of this report. Neurological abnormalities were present in the index case. The younger siblings were neurologically normal. The familial association of achalasia, alacrimia and adrenal insufficiency, rather than being fortuitous, is a distinct clinical entity.