Gowda Parameshwar Prashanth

Unusual cause of abdominal pain in pediatric emergency medicine.

Atypical manifestations of acute hepatitis A virus (HAV) infection include ascites, pleural effusion, acute renal failure, aplastic anemia, and neurological manifestations. Although association of HAV and acute cholecystitis is known, presentation of hepatitis A infection with acute cholecystitis has not been reported in pediatric emergency medicine literature. Primary acute acalculous cholecystitis in children is rare and commonly attributed to systemic infections. We report a case of a child developing acute viral cholecystitis as a presenting feature of sporadic HAV infection and review HAV-associated cholecystitis in children. The article provides a brief illustration of evaluating acute abdominal pain in older children in the emergency department in a developing country.

Intravenous Artesunate for Transfusion-Transmitted Plasmodium vivax Malaria in a Preterm Neonate

Transfusion-transmitted malaria (TTM) in neonates is rare. TTM can occur in both endemic and nonendemic areas because the current tests used to screen the donor blood for malaria are unreliable when there is low parasitemia. Malaria must be considered as an important differential diagnosis for neonatal sepsis after exchange transfusion. Management strategy in TTM in the neonatal period is not standardized; exchange transfusion is often considered. We used intravenous artesunate in a case of severe malaria caused by Plasmodium vivax in a 30-week preterm neonate after packed red blood cell transfusion on day 19 of life. This is the first clinical report of parenteral artesunate successfully used in the neonatal period. We emphasize the need for further investigation of the safety and efficacy of intravenous artesunate in the treatment of severe neonatal malaria.

A case of hereditary sensory autonomic neuropathy type IV

Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation. Developmental delay and mental retardation are usually present. Ultrastructural study of the peripheral nerves demonstrates loss of the unmyelinated and small myelinated fibers. We here report a 8 year -old boy with HSAN IV with typical clinical features where the diagnosis was supported by nerve biopsy findings. However, our case was unusual since mental development was normal.

A retrospective analysis of early experience with modified complete primary repair of exstrophy bladder (CPRE) in neonates and children.

Objective: To study the problems faced during the surgery and follow-up of modified complete primary repair of exstrophy (CPRE) technique. Initial experience with CPRE and its short- and long-term outcomes with respect to continence status and psychosocial impact are reported. Materials and Methods: A retrospective review of the hospital case records from March 2008 to September 2012 was performed. Data of patients with bladder exstrophy managed by a single paediatric surgeon using modified CPRE technique were analysed. Quality of life and psychosocial impact of the surgery were assessed using Pediatric Quality of Life Inventory (PedsQL 4.0) and compared with those of typical peers. Results: Eight children (age 4 days-12 years) underwent CPRE using modified Mitchells technique. Two patients (25%) experienced early postoperative complications, with infection and fistula developing in one each. All the patients were doing well on follow-up, with variable continence rates and good cosmesis. Mean duration of follow-up was 18.5 months (range 6 months-4 years). Five out of seven (71%) children were continent or partially continent. One case was lost to follow-up. PedsQL scores were comparable with those of age-matched peers in all domains except the social functioning domain in 8-12 years age group (83.53 ± 9.70 vs. 77.86 ± 10.22, P < 0.05). Conclusion: Our preliminary results with modified CPRE in neonates and children have been encouraging. No major complications were observed. Continence rate was satisfactory and cosmetic results were good. Though the technique is being practiced at several Indian centres, there is a paucity of comprehensive Indian data on CPRE.

Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses

Neuronal ceroid lipofuscinosis is a group of progressive neurodegenerative disorders characterized by accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. This study is a retrospective review of charts of patients with a diagnosis of infantile and late-infantile neuronal ceroid lipofuscinosis seen between January 2009 and December 2011. Of the 16 patients, 5 had infantile type and 11 had late-infantile neuronal ceroid lipofuscinosis. Diagnosis was confirmed by appropriate enzyme assay. Clinical presentation was quite varied. Common presenting features included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series, and novel neuroimaging finding in the form of isolated dentate nucleus hyperintensities were noted. During follow-up, all patients had a progressive downhill course and one patient died. Prenatal diagnosis could be offered to one family. This study suggests that infantile and late-infantile neuronal ceroid lipofuscinosis is not uncommon in this region of the country and the phenotype may be different.

L-2-Hydroxyglutaric Aciduria: Report of Two Indian Families

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare type of organic acidemia that has characteristic neurological manifestations including macrocephaly, developmental delay, epilepsy and cerebellar ataxia. Worldwide, few hundred cases of L-2-HGA are reported till date. The authors report the first three cases of L-2-HGA from two Indian families. Pertinent clinical aspects of this rare neurometabolic disorder namely, lack of acute exacerbations, and predisposition to brain tumors, are highlighted. In the present series, all cases had infantile onset of symptoms in the form of global developmental delay, seizures and cerebellar ataxia without extra-pyramidal signs or macrocephaly. One child presented as acute febrile encephalopathy which has not been described as a presenting feature.

A Boy with Sapphire Thumbnails: Lunulae Ceruleae

A 12-y-old boy presented with bluish discoloration of thumb nails for three months. There was no significant past or present medical history except one episode of jaundice of 1 mo duration at 3 y of age. Blood investigations done during the episode were unavailable. The boy was otherwise asymptomatic. On examination, there was no pallor, icterus, or central cyanosis. Bluish discoloration was limited to the lunular portion of nail on both thumbs and great toes (Fig. 1). There was no clubbing. Per abdomen, liver was normally palpable 2 cm below right costal margin with a span of 6 cm. Spleen was not enlarged. Serum total bilirubin [1.8 mg/dL (normal: 0.2–1.0), direct bilirubin of 0.26 mg/dL (normal: 0.0–0.2)], liver enzymes [Alanine aminotransferase (ALT): 21 IU/L (normal: 15–27), Aspartate aminotransferase (AST): 26 IU/L (normal: 30–65)] and serum protein (5.5 g/dL) were normal. Serum ceruloplasmin was low-normal (0.28 g/L; normal: 0.22–0.61 g/L) with increased baseline urinary copper excretion [564 mcg/d (normal: 32–64 mcg/d)]. No Kayser Fleischer (KF) ring was seen on slit-lamp examination. Considering the possibility of Wilson disease, oral D-penicillamine (20 mg/kg/d) with zinc acetate (75 mg/d) and pyridoxine (25 mg/d) were started [1]. High urinary-copper (1,286 mcg/d) was observed during follow-up. Hepatic-copper estimation was not feasible in the present set-up and hence Wilson disease could not be confirmed. Incidentally, the female sibling (asymptomatic and without nail-changes) also showed high urinary-copper and low-normal ceruloplasmin. Both refused to undergo liver biopsy. Blue discoloration of lunula is most commonly seen with drug therapy like zidovudine (HIV infection) and chemotherapy (cyclophosphamide, vincristine, doxorubicin, and hydroxyuria) [2, 3]. Azure nails are classically described in silver and phenolphthalein toxicity. Systemic conditions manifesting with blue nails include acrolabial telengiectasis, methemoglobinemia (HbM disease), and Wilson disease [4]. Lunulae ceruleae or blue lunula in Wilson disease is not reported in pediatric literature till date. The pathogenesis remains to be elucidated [4, 5]. In the present case Wilson disease, though not confirmed, is likely in view of the absence of other causes of blue nails. Outward shift of the discolored nail portion owing to nail growth (Fig. 2) lead to it’s dis appearance after 4 mo of therapy. The authors suggest that the clinicians be cognizant of the possibility of Wilson disease in children presenting with bluish nail-discoloration.

Comment on persistent hyperinsulinemic hypoglycemia of infancy

We thought the above stated points are worth mentioning though the review specifically highlighted the current concepts in PHHI. These reports are preliminary but it is important for the treating medical‐surgical teams to bear in mind these emerging potential drawbacks of preoperative PET scan and the coexistence of ectopic foci of nesidioblastosis. One should note that intraoperative histological confirmation is invariably needed in both these instances. Studies further characterizing persistent hyperinsulinemic hypoglycemia of infancy in Indian population are warranted.

The Significance of Enterohepatic Circulation in the Causation Neonatal Hyperbilirubinemia

Sir, This is in reference to the study by Rana et al.[1] A robust triple-blind design, appropriate sample-size, and statistical methods–sensitivity analysis and effect-size estimation– employed by the authors could well make the investigation a landmark study evaluating the role of zinc in the prevention of hyperbilirubinemia in neonates. However, the study simultaneously conjures-up an important question about the role of enterohepatic circulation (EHC) in the causation of neonatal jaundice which may also have implications on the physiological doctrine for the intervention tested. Overproduction of bilirubin from heme is considered the most prevalent mechanism of neonatal hyperbilirubinemia apart from impaired uptake, conjugation, and EHC. We have limited instances where EHC is considered the prime mechanism for jaundice, e.g., pyloric stenosis, lower intestinal atresia, paralytic ileus, and meconium-plug-syndrome (virtually no removal of bilirubin due to distal obstruction). There is limited data to suggest that the resorption of bilirubin from the intestine can be a major cause of neonatal physiologic jaundice [2]. It has been stated that neonatal hyperbilirubinemia is exacerbated–if not caused–by enhanced bilirubin resorption through EHC [3]. In fact, more obvious than EHC, a markedly reduced UDP-glucuronyl transferase activity is noted in pyloric stenosis [3]. Enhanced EHC induced by human milk has a putative role in prolonging ‘breastmilk jaundice’ [4]. In the past, various strategies have been employed to counteract EHC with inconsistent results, in terms of the incidence and severity of jaundice [5]. Consequently, it is advised that such interventions are at the best used as an adjuvant, along with more established modalities like phototherapy [6]. The results of the present study by Rana et al., showing no significant reduction in the incidence of hyperbilirubinemia, requirement of phototherapy and mean STB (serum total bilirubin) at 72 h, are in line with the outcomes of previous studies employing other agents. Therefore, although past studies have suggested that EHC may play a significant role in the bilirubin metabolism, it appears less likely that EHC is a major cause of neonatal hyperbilirubinemia, though it may play some contributory role in prolonging physiological jaundice. Therefore, negative results of these studies probably have a bearing on the underlying doctrine of ‘prevention of hyperbilirubinemia by clogging-up EHC’, irrespective of the agent (agar, charcoal, cholestyramine or zinc) employed. Other limitations of the study were the use of nonstandardized oral zinc dose, lack of serum zinc level monitoring, inadequate reporting of the adequacy of breastfeeding and vomited and/or skipped doses, and delayed initiation of the intervention.

Intact choledochal cyst with spontaneous common hepatic duct perforation: a spectrum of congenital biliary canal defects?

p JP A 3-month-old girl admitted for lower respiratory infection developed constipation and abdominal distension 3 days later. On examination, she had mild abdominal distension with absent bowel sounds. Abdominal sonography showed a normal biliary tract and pancreas. Computed tomography of abdomen revealed minimal localized fluid collection in the right upper quadrant. Abdominal paracentesis done 24 hours later revealed bile-stained ascitic fluid. Exploratory laparotomy on the same day revealed intact cystic dilation of common bile duct (type 1). Operative cholangiography revealed leakage of contrast from the distal common hepatic duct FIGURE 2. Excised intact choledochal cyst with gallbladder.