Asok Kumar Datta

Alkaptonuria diagnosed in a 4-month-old baby girl: a case report

The mother of a four month old female baby attended in the well baby clinic with the complaint of black staining of the diaper after few minutes of urination. The baby was born of a non consanguineous marriage, healthy and breast fed. Mother noticed that stain first at the age of two and half month. The urine when kept in a test tube for two hours turned black. Laboratory examination of urine revealed increased concentration of homogentisic acid. The patient was diagnosed as alkaptonuria.

Menkes kinky hair disease: A case report

An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study.

Neonatal Brain Abscess due to Extended-Spectrum Beta-Lactamase Producing Klebsiella pneumoniae.

Klebsiella pneumoniae (K. pneumoniae) causing brain abscess in newborn infants is rare. Presented herein, is a 27-day-old male neonate who developed two frontal lobe abscesses in association with K. pneumoniae sepsis and meningitis. Antibiotic susceptibility testing utilizing the double-disk synergy method (Cefotaxime and Amoxycillin-Clavulanate) confirmed the extended spectrum beta-lactamase (ESBL) production by the isolate. He was treated simultaneously with antibiotics (Meropenem and Amikacin) and abscess aspiration through the anterior fontanelle, with less than satisfactory outcome. ESBL producing K. pneumoniae brain abscess in neonates is extremely rare in the English literature. Emperical carbapenems and aminoglycoside coverage in neonates with K. pneumoniae sepsis and brain abscess, especially in areas with high rate of ESBL producing bacteria may be warranted.

Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder

Cardiofaciocutaneous syndrome or CFC syndrome is a rare genetic disorder first described in 1986. It is one of the RASopathies involving multiple organs particularly the heart, skin and face affecting males and females equally. The phenotypic features overlap with 2 other conditions, the Noonan and Costello syndrome. We report on a 22-month-old boy with CFC syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, growth failure and developmental delay. Estimated population of affected individuals worldwide is a few hundreds.

Kinetic and Mechanistic Studies on the Reaction of DL-Methionine with [(H2O)(tap)2RuORu(tap)2(H2O)]2

The reaction has been studied spectrophotometrically; the reaction shows two steps, both of which are dependent on ligand concentration and show a limiting nature. An associative interchange mechanism is proposed. Kinetic and activation parameters (k1∼10−3s−1 and k2∼10−5s−1) and (ΔH≠1=13.8±1.3kJmol−1, ΔS≠1=−250±4JK−1mol−1, ΔH≠2=55.53±1.5kJmol−1, and ΔS≠2=−143±5JK−1mol−1) have been calculated. From the temperature dependence of the outer sphere association equilibrium constant, thermodynamic parameters (ΔH∘1=16.6±2.3kJmol−1 and ΔS∘1=95±7JK−1mol−1; ΔH∘2=29.4±3.2kJmol−1 and ΔS∘2=128±10JK−1mol−1) have also been calculated.

Autism and mental retardation with convulsion in tuberous sclerosis: a case report.

A 6-year-old male child born of a non-consanguineous marriage admitted in the pediatrics emergency ward with the history of recurrent attacks of convulsion since 4 month of age. He was also suffering from frequent vomiting. Examination revealed that the child had characteristics features of angiofibromas on the face with butterfly distribution, hyperpigmented patches on forehead, hypopigmented macules on trunk, prominent subependymal and cortical tubers. The child was diagnosed as tuberous sclerosis. Association of autistic behaviors and severe degree of mental retardation are noteworthy in this child indicating the need of counseling as early as possible along with behavioral and educational strategies for mental retardation from early age with other symptomatic management.

A study on association of iron deficiency with attention deficit hyperactivity disorder in a tertiary care center.

Background: Iron is important for brain development and cognitive function. Iron deficiency may cause alteration of neurotransmitters and may be manifested by different central nervous system disorders including attention deficit hyperactivity disorder (ADHD). Aims: As studies are scarce in the Indian context, we had undertaken this study to find out the association between iron deficiency and ADHD. Settings and Design: Hospital-based cross-sectional study. Materials and Methods: Hematological parameters indicating iron status (hemoglobin [Hb], ferritin, Iron, total iron binding capacity [TIBC], mean corpuscular volume [MCV], and mean corpuscular Hb [MCH]) were measured among 119 ADHD patients selected by complete enumeration method and 119 controls. Statistical Analysis: Shapiro–Wilk test, Mann–Whitney U-test, Spearmans correlation, and binary logistic regression were used. P < 0.01 was taken as statistically significant. Results: Hb, iron, ferritin, MCV, and MCH were lower among cases and negatively correlated to ADHD, while reverse is true for TIBC and ADHD. Iron deficiency anemia makes one 3.82 times more prone for ADHD. Conclusion: Iron deficiency was associated with ADHD.

Autosomal recessive split-hand/split-foot malformation

Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot. It is also known as ectrodactyly or lobster claw hand. Although SHFM is mostly autosomal dominant, there are isolated case reports which indicate that it can be autosomal recessive. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance.

Estimation of G6pd Status in the Rajbangshi Population of Sushrutanagar

The Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency renders the cells susceptible to severe hemolysis under oxidative stress producing conditions. Due to considerable genetic heterogeneity it is found to be distributed in an unequal manner in different parts of the world including India. The present study was undertaken to find the distribution of G6PD deficiency in the Rajbangshi population group of Sushrutanagar, Darjeeling district. The Rajbangshis are one of the oldest tribes residing in North Bengal. A quantitative assay of the G6PD activity was performed in the Rajbangshi population and the non Rajbangshi control population of the same area. The G6PD deficiency was found in 12 percent of the Rajbangshi population studied which is significantly higher than the value of 3.3 percent found in the controls with the lower and upper confidence limit for the population Odds ratio being 3.58 and 25.93 respectively at 95% confidence interval. This high rate of G6PD deficiency in the population group studied poses them to a greater risk for several oxidative stress producing conditions including some commonly used antimalarial drug like Primaquin.

Clinicoparasitological Study of Acute Severe Malaria in Children

Malaria is a major disease in India and other Asian Countries next to Africa. Depending on the endemicity the incidence of malaria and its attack in pediatric population varies. The micro epedemiology of malaria is important. Situation of emergence of drug resistance in malaria is also alarming. There are reports of cases from new areas hitherto free from malaria and the change in the trend of the complications. Awareness of the relative prevalence of different complications in a particular geographic area could greatly facilitate the approach towards early diagnosis and prompt treatment. The study is conducted in Bankura Sammilani Medical College, Bankura, West Bengal. Total number of confirmed cases of malaria (n=112) was taken from June.2010 to May 2011. The diagnosis was based on Clinical, Malaria antigen test and parasitological study. Among them severe malaria cases were selected based on the WHO criteria 2000 for severe malaria. Study done in relation to incidence , clinical features , complications and mortality of severe cases and compared those with non severe malaria cases. The mean age is about 6 years, 6.3% of cases occur in infancy, severe malaria in infancy is a dreaded complication. Male had higher frequency. Majority of severe malaria cases are due to p.falciparum. Commonest complication is cerebral malaria.