Necrotizing myelitis in an immunocompetent child: a case report with review of literature.

A few cases of necrotizing myelitis have been reported in adults since its first description in 1973. No case has been described in the pediatric age group. A 12-year-old boy, who presented with acute flaccid paraplegia, loss of sphincter control and sensory loss showed features suggestive of necrotizing myelitis on magnetic resonance imaging. Investigations carried out could not reveal a specific etiological or pre-disposing factor. No clinical improvement occurred despite the therapy.

Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q) with pericentric inversion of chromosome 9.

This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q) in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.

Incomplete Kawasaki disease with recurrent skin peeling: a case report with the review of literature.

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.

Morgagni hernia with Down syndrome: a rare association -- case report and review of literature.

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.

Infantile hemangioendothelioma.

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.

Ovarian dysgenesis with balanced autosomal translocation.

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.

Knowledge, attitude and practices of parents of children with febrile convulsion.

CONTEXT: Parental anxiety and apprehension is related to inadequate knowledge of fever and febrile convulsion. AIMS: To study the knowledge, attitude, and practices of the parents of children with febrile convulsions. SETTINGS AND DESIGN: Prospective questionnaire based study in a tertiary care centre carried over a period of one year. SUBJECTS AND METHODS: 140 parents of consecutive children presenting with febrile convulsion were enrolled. STATISTICAL ANALYSIS USED: Chi-square test. RESULTS: 83 parents (59.3%) could not recognise the convulsion; 90.7% (127) did not carry out any intervention prior to getting the child to the hospital. The commonest immediate effect of the convulsion on the parents was fear of death (n= 126, 90%) followed by insomnia (n= 48, 34.3%), anorexia (n= 46, 32.9%), crying (n= 28, 20%) and fear of epilepsy (n= 28, 20%). Fear of brain damage, fear of recurrence and dyspepsia were voiced by the fathers alone (n= 20, cumulative incidence 14.3%). 109 (77.9%) parents did not know the fact that the convulsion can occur due to fever. The long-term concerns included fear of epilepsy (n= 64, 45.7%) and future recurrence (n= 27, 19.3%) in the affected child. For 56 (40%) of the parents every subsequent episode of fever was like a nightmare. Only 21 parents (15%) had thermometer at home and 28 (20%) knew the normal range of body temperature. Correct preventive measures were known only to 41 (29.2%). Awareness of febrile convulsion and the preventive measures was higher in socio-economic grade (P< 0.05). CONCLUSIONS: The parental fear of fever and febrile convulsion is a major problem with serious negative consequences affecting daily familial life.

Selective testosterone secreting adrenocortical carcinoma in an infant.

Adrenocortical carcinoma in children is a rare tumor of adrenal gland. An infant presented with signs of virilization due to selective testosterone hypersecretion. Diagnosis was established with the help of the computerized tomographic scan and histopathological examination. Following adrenalectomy patient made uneventful recovery and six months later does not have any clinical or laboratory evidence of recurrence or metastasis.

Nephritis and cerebellar ataxia: rare presenting features of enteric fever.

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.

Scleredema adultorum.

Scleredema adultorum is a rare connective tissue disorder reported usually following streptococcal infection, influenza, measles, and mumps. It has been reported occasionally following trauma and tuberculous lymphadenitis. This is a report of scleredema adultorum developing after chicken pox in an eight-year-old male child. The diagnosis was established by characteristic picture on skin biopsy using special stain. The patient had a benign course and a spontaneous recovery in two weeks. The case has been reported as the first case of scleredema adultorum developing after chicken pox.

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

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.

Chloroquine induced parkinsonism.

A case of parkinsonism is reported in a 5-years-old male child following prolonged use of chloroquine. The patient presented with reduced spontaneous movements and speech with an expressionless face and a parkinsonian gait but no tremors. His investigations including CT scan brain, CSF study and serum ceruloplasmin were normal. Chloroquine was discontinued and the patient was started on oral trihexyphenidyl. The patient showed gradual recovery and the drug was successfully withdrawn. The toxic manifestations were only transient and reversible.