Recent advances in the diagnosis and treatment of childhood tuberculosis.

Despite over 2.3 million (26% of global burden) cases of tuberculosis (TB) in India the accurate diagnosis of childhood TB remains a major challenge. Children with TB usually have paucibacillary disease and contribute little to disease transmission within the community. Consequently the treatment of children with TB is often not considered a priority by TB control programmes. Adequate and timely assessment of TB infection in childhood could diminish epidemiological burden as underdiagnosed pediatric patients can eventually evolve in to an active state and have the potential to disseminate the etiological agent Mycobacterium tuberculosis, notably increasing this worldwide public health problem. In this review we discuss the most important recent advances in the diagnosis of childhood TB: (1) Symptom-based approaches, (2) novel immune-based approaches, including in vitro interferon-γ IGRA release assays IGRA tests; and (3) bacteriological and molecular methods that are more rapid and/or less expensive than conventional culture techniques for TB diagnosis and/or drug-resistance testing. Recent advances have improved our ability to diagnose latent infection and active TB in children, nevertheless establishing a diagnosis of either latent infection or active disease in HIV-infected children remains a major challenge.

Thrombocytopenia with Unilateral Dysplastic Radius- Is it Thrombocytopenia - Absent Radius (TAR) Syndrome?

Thrombocytopenia - absent radii (TAR) syndrome is an autosomal recessive genetic rare disorder with hypomegakaryocytic thrombocytopenia and bilateral absent radius that may have additional anomalies. This disorder is characterized by thrombocytopenia resulting in potentially severe bleeding episodes primarily during infancy. We report the case of a 7-day-old term appropriate for gestational age (AGA) male baby, product of non consanguineous marriage presented with bloody loose stool, right sided upper limb deformity and paleness of the body, was diagnosed as TAR syndrome with some atypical presentation. Such type of atypical presentation has not been previously reported in a case with TAR Syndrome.Patient was managed in our hospital with packed cell transfusion and two units platelets concentrates transfusion, Intra-venous antimicrobials, and other supportive treatment. He gradually improved and was discharged after seven days of hospital stay with advice to consult orthopedic surgeon for opinion regarding limb reconstruction.

Morphological Pattern of Cutaneous Adverse Drug Reactions due to Antiepileptic Drugs in Eastern India.

INTRODUCTION: Cutaneous manifestations of adverse drug reactions are a common occurrence and need to be differentiated from other causes of similar manifestations. Antiepileptic drugs (AED) usually are responsible for severe cutaneous adverse drug reactions (CADR) like Stevens-Johnson Syndrome/Toxic epidermal necrolysis (SJS/TEN) and drug rash with eosinophillia and systemic symptoms (DRESS). There is paucity of published research regarding morphological pattern of CADR due to various antiepileptic drugs AED. OBJECTIVE: To study the morphological patterns of CADR due to AED and common anticonvulsant drugs implicated particularly in severe CADR such as SJS/TEN and DRESS in a tertiary care teaching hospital in eastern India. MATERIALS AND METHODS: A prospective, observational study was conducted over a period of 4 years from August 2009 to July 2013 after the approval of the Institutional Ethics Committee using self-reporting method for selection of cases. SETTINGS: All patients with CADR after AED consumption for various conditions presenting to the Dermatology outpatient department (OPD) and Pediatric OPD and Indoor patients of a tertiary care teaching hospital located in Rohtas district of Bihar were included in this study. RESULTS: During the study period, 64 cases of severe CADRs were included in this study. Out of 64 patients, 28 were male and 36 were female with mean age 36.1 years (range 6 years to 72 years). Most common AED implicated for CADR was Phenytoin. Maculopapular rash was the most common cutaneous manifestation of ADRs (42.85%). Serious CADR like TEN and SSJS were more likely in patients prescribed Phenytoin and Carbemazepine simultaneously. CONCLUSION: CADRs are a common occurrence and awareness about the same is essential for diagnosis and prevention. This study identified combined use of phenytoin and carbamezepine as a most important risk factor for serious CADR like SJS and TEN.

Clinico-immunological profile and their correlation with severity of atopic dermatitis in Eastern Indian children.

OBJECTIVE: To study the clinical features, absolute eosinophil count, and total immunoglobulin E (IgE) level and their association with severity of atopic dermatitis in Eastern Indian children (Bihar). DESIGN: Prospective hospital-based study. SETTINGS: Pediatrics out-patient Department (OPD) and Dermatology OPD of a Tertiary Care Teaching Hospital located in Rohtas District of Bihar. The study was carried out over a period of 2 years during January 2010 to December 2011. PARTICIPANTS: One hundred and thirty two children aged 0 month to 15 years were diagnosed with atopic dermatitis. MAIN OUTCOME: Demographic profile, common clinical features, absolute eosinophil count, and total IgE level and their correlation with severity of atopic dermatitis in Eastern Indian children. RESULTS: Out of a total 1829 pediatric patients aged 0 month to 15 years with some pediatric dermatoses, 132 (7.21%) had atopic dermatitis. Of 132 patients, 57 (43.2%) were boys and 75 (56.8%) were girls, with a male to female ratio 1:1.3. Of these 29 were infants and 103 were children. Two (62.1%) patients belonged to rural area whereas 50 (37.9%) belonged to urban area. Personal history, family history (up to third degree relatives), and both personal and family history of atopy were present in 43.18%, 33.34%, and 12.1% of the subjects respectively. Majority (89.4%) of patients had onset before 5 years of age. In infantile Atopic dermatitis (AD), mean age ± SD at onset was 5.2 months ± 3.01 months. In infantile group, 8 (27.6%) had mild, 14 (48.3%) moderate, and 7 (24.1%) had severe atopic dermatitis. Infantile AD had statistically significant higher SCORing Atopic Dermatitis (SCORAD) index score in all three grades of severity of the disease. One hundred and three patients had childhood AD, out of which 40 (38.8%) were boys and 63 (61.2%) were girls, with a male to female ratio 1:1.57. In childhood AD, mean age ± SD at onset of the disease was 3.47 years ± 3.02 years. Sixty three (61.1%) belonged to rural area whereas 40 (38.9%) were from urban area. One hundred and thirty (98%) patients presented with itching. Ninety two (69.7%) patients had high absolute eosinophils count (AEC) with mean ± SD of 1004.1 ± 596.2 (range 325-2510). Eighty seven (65.9%) patients had increased total serum immunoglobulin E (TsIgE) with mean ± SD value of 1127.11 IU/ml ± 731.69 IU/ml (range: 125-2680 IU/ml). CONCLUSION: Epidemiological data on atopic dermatitis in India are mainly hospital-based, true-point prevalence in community is still scanty. Although the prevalence of AD is considered to be increasing, it still remains low in comparison to developed countries. In Indian children, the disease is relatively milder than children of developed countries. This study identified that both AEC and TsIgE increased significantly in about 66% patient and directly correlated with the severity of the AD.

Laparoscopic appendectomy for mucocele of the appendix.

Mucocele of the appendix is an aseptic dilatation secondary to obstruction. The preoperative clinical diagnosis of appendiceal mucoceles can therefore be difficult because of this lack of clinical symptomotology. Surgical excision is the treatment of choice in benign mucocele. We report a case presenting to the surgeons where initial clinical findings and investigations suggested a cyst in the right adnexa. Diagnostic laparoscopy revealed mucocele of the appendix and laparoscopic appendicectomy was done.

Wilson's Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings.

Wilson's Disease (WD) is a rare, autosomal, recessive, inborn error of the copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser - Fleischer ring. Here, we are reporting two siblings who were affected by Wilson's disease, with only neurological manifestations, without any hepatic involvement.

Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurodegenerative disease seen mainly in the Aggarwal community in India. It is characterized by early-onset macrocephaly with mild motor developmental delay, gradual onset ataxia, spasticity, seizures and usually late onset mild cognitive deterioration. Very few familial cases of MLC have been reported in the world literature, and to the best of our knowledge, there is no published study of all three siblings affected with MLC in a same family. Here, we are reporting three siblings belonging to a non-Aggarwal Hindu family, affected with MLC, who presented with early-onset macrocephaly and gradual onset ataxia.