Renu Suthar

Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder, characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes, and mental retardation. Very few cases are reported in literature from developing countries. Diagnosis is often delayed due to non-familiarity with the characteristic features of this syndrome. AIMS: To report 11 cases of RSTS and to review the current literature. SETTINGS AND DESIGN: Retrospective study conducted in genetic and metabolic unit of a tertiary care teaching hospital in north India over a period of 3½ years. MATERIALS AND METHODS: 11 patients with diagnosis of RSTS were identified, and their case sheets were reviewed. RESULTS: Developmental delay was presenting complaint in 10 patients, and seizure in 1 case. 7 patients had microcephaly (head circumference below −3 SD), and a prominent beaked nose was seen in 9 patients. The intelligence quotient (IQ) varied from 22-62 in 7 patients who had mental retardation. The most notable features in hands were broadness, shortening, and flattening of the distal phalanx of thumbs or great toes. Additionally, we also noted webbing of neck, microphthalmia, and pachygyria (on MRI brain) in 1 patient each. CONCLUSIONS: The diagnosis of RSTS is primarily clinical and based on characteristic phenotype that is often combined with a variety of somatic anomalies. An early diagnosis facilitates appropriate genetic counseling and in planning the management.

Febrile Neutropenia: Outline of Management

Febrile neutropenia is a common emergency encountered in children receiving chemotherapy for a malignancy. Left untreated, it can lead to serious morbidity and mortality. Febrile neutropenia is suspected in any patient on chemotherapy who presents with fever. Prompt evaluation and management by the primary contact pediatrician is essential for a successful outcome. A detailed history and physical examination is warranted to identify source of infection, although two thirds of them may not have localizing symptoms or signs. Risk stratification is valuable in categorizing the severity and guiding therapy. Initial stabilization, prompt initiation of appropriate antibiotics and adequate supportive care are the cornerstone of treatment. Knowledge of the locally prevailing bacteriological profile and antimicrobial susceptibility data is crucial for each hospital/unit to frame and periodically modify guidelines for the choice of antimicrobials. Delay in initiating antimicrobials significantly worsens the outcome. Education of the family as well as the members of the treating unit is important in this regard. Pro-active steps must be taken to reduce incidence of hospital acquired sepsis. Diagnosis and management in relevance to the emergency room is reviewed and institutional practice is shared.

Long-term Clinical and Radiologic Outcome in 500 Children With Parenchymal Neurocysticercosis

Background: Our aim was to study long-term clinical and radiologic outcome in children with parenchymal neurocysticercosis (NCC) and its predictors. Method: Five hundred children with NCC registered in the pediatric NCC clinic between January 1996 and December 2002 and followed till December 2009 were enrolled. Demographic details, clinical presentations and therapy received were recorded. Outcome was evaluated in terms of seizure recurrence and resolution of lesions on neuroimaging. Various factors that could influence outcome were studied. Results: Mean age at presentation was 8 ± 2.7 years, and the mean duration of follow-up was 8.8 ± 2.03 years; 79.6% (398) had single lesion, and 20.4% (102) had multiple lesions at presentation; 14.5% (58) of children with single lesion, and 28.4% (29) of children with multiple lesions had recurrent seizures (P < 0.001) during follow-up. At 6-month follow-up neuroimaging, resolution was seen in 52.7% (210) and 31.3% (32) of children with single and multiple lesions, respectively (P < 0.001). On prolonged follow-up, 94.6% (384) of single-lesion NCC and 88% (90) of multiple-lesion NCC (P < 0.001) had radiologic resolution. Single-lesion NCC, radiologic resolution and cysticidal therapy were associated with better seizure outcome (P < 0.05). Children with multiple lesions had significantly higher percentage of calcified lesions on long-term follow-up compared with those with a single lesion (11.7% vs. 3.6%, P < 0.05). Conclusions: Children with a single-lesion NCC have favorable outcome with resolution of most of the lesions and few seizure recurrences. Cysticidal therapy leads to better seizure control and increased resolution of lesions on short-term follow-up.

Childhood Anti-NMDA Receptor Encephalitis

ObjectivesTo study the clinical profile, and outcome of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.MethodsThis is a retrospective case series of children <12 y of age, diagnosed with anti-NMDAR encephalitis at a tertiary care institute during the period, May 2013 through June 2015.ResultsTwenty patients were tested for suspected anti-NMDAR encephalitis over this 2 y period. Of these, six children were positive for anti-NMDAR antibodies. Four of these six children had completed treatment and two are currently receiving immunotherapy. Behavioral changes, psychosis, seizures and oro-lingual-facial dyskinesia were the presenting features. Extreme irritability, insomnia and mutism were noted in all the children. The symptoms were persistent, and the course was progressive over 4–8 wk duration. Neuroimaging and electroencephalography were non-specific. Intravenous pulse methylprednisolone and immunoglobulins were used as first-line therapeutic agents. Only one patient responded to first line immunotherapy; five out of six children required second-line immunotherapy. One patient recovered following rituximab, and two patients showed a good response to cyclophosphamide pulse therapy; two patients are currently under treatment with second line immunotherapeutic agents. Tumor screen was negative in all children.ConclusionsAnti-NMDAR encephalitis is rare but a potentially treatable condition. Timely recognition is essential because treatment is entirely different from other viral encephalitis. Aggressive immunotherapy is the key to a favourable outcome.

Knowledge, Attitude and Practice (KAP) Study of Pediatricians on Infantile Spasms

ObjectiveTo investigate the knowledge, attitude, and practice of Infantile Spasms among pediatricians.MethodsA survey was carried out among pediatricians serving in Punjab, Haryana, Chandigarh, Himachal Pradesh and Delhi. The survey was done by Survey Monkey Software through emails by using a structured questionnaire between July 2016 and December 2017.ResultsA total of 236 pediatricians responded to the survey. Most of the respondents (95.5%) correctly considered Infantile Spasms as a seizure type. The most preferred investigation was Electroencephalogram by 91.8% pediatricians; however, only 57.7% considered it to decide the treatment. Perinatal asphyxia was the most recognized etiology (60.7% pediatricians). For treatment of Infantile Spasms, 66.8% follow Nelson textbook of Pediatrics. Adrenocorticotropic hormone was the most preferred first choice drug by 40% pediatricians. Alternate anti-epileptic drug was considered by 60.9% pediatricians when there is no clinical response. Only 24% pediatricians considered treatment response as a complete cessation of spasms. Majority (90%) of pediatricians felt that there is a necessity for increased awareness and 62% pediatricians felt that available information was insufficient.ConclusionsA substantial number of pediatricians lack precise knowledge on evidence-based practice of Infantile Spasms. In developing countries, where pediatricians provide the initial management of Infantile Spasms, there is need to empower them and develop simplified national guidelines/consensus statement for management of Infantile Spasms.

Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling.

Abstract We present a 2-month-old male affected by Zellweger syndrome, a rare peroxisomal disorder. The diagnosis was supported by clinical and radiological findings and established by biochemical tests. The characteristic radiological features included anomalous ossification (epiphyseal stippling). We also discuss main differential diagnoses of epiphyseal stippling and a brief literature review.

Stroke in a case of neonatal lupus: an uncommon complication.

Stroke is an extremely rare complication of congenital heart block in children. We report a 2-year-old girl with congenital complete heart block who presented with acute-onset right middle cerebral artery territory stroke. The congenital heart block was secondary to maternal lupus.

Acute Axonal Polyneuropathy Following Honey-Bee Sting A Case Report

Hymenoptera stings lead to a myriad of neurologic manifestations by the mechanism of immediate or delayed hypersensitivity reactions. The more common form of polyneuropathy associated with these stings is the acute inflammatory demyelinating type. We describe a 6-year-old girl, who developed progressive, symmetrical, ascending weakness within 3 days after a bee sting. Serial nerve conduction studies confirmed acute, motor-predominant axonal polyneuropathy. Use of intravenous immunoglobulin induced halt of progression, prompt stabilization and a gradual recovery. This case highlights that even a single honey-bee sting can result in acute-onset axonal variety of polyneuropathy in children.

Proximal Myopathy A Rare Presentation of Celiac Disease

Celiac disease presenting as proximal myopathy is rarely seen, particularly in children. We report a 5-year-old girl who presented with bilateral lower limb weakness and on examination had proximal myopathy. She also had florid rickets and short stature. On investigation, the underlying etiology turned out to be celiac disease. Proximal myopathy with celiac disease can be secondary to the disease per se or due to associated osteopenia and rickets.

Duchenne Muscular Dystrophy: A Practice Update

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by a deficient or defective synthesis of dystrophin protein. DMD is the most common form of muscular dystrophy with an incidence of about 1 in 5000 live boys. Though primarily resulting in progressive muscle weakness, it affects various other organs as well. Heart, brain and smooth muscles are commonly involved, because of expression of dystrophin in these organs. The management of DMD requires a multidisciplinary liaison, anticipatory management and prevention of the complications. Consensus based international recommendation for management of DMD have been published in the year 2010, recognizing DMD as a multi-systemic and progressive disease. The proper management of a boy with DMD can improve ambulation, independence, quality of life and delay disease – related complications. A lot can be done to comfort affected children and their care givers even in a resource limited setting. This review discusses these options and also the current understanding of the disease.