Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

BACKGROUND: SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far. METHODS: Methods for this study consisted of clinical examination, neuroimaging studies (MRI), serum dosages, and SLC30A10 genetic analysis. RESULTS: We describe early disease manifestations (including videos) in 5 previously unreported Indian children, carrying novel homozygous SLC30A10 mutations. Gait and speech disturbances, falls, dystonias, and central hypotonia were the presenting neurological features, starting within the first 5 years of life. All children also had severe hypermanganesemia, polycythemia, variable degree of liver disease, and marked brain MRI T1 hyperintensities. CONCLUSIONS: Our findings expand the mutational and clinical spectra of this recently recognized disorder. An early diagnosis is warranted, because treatment with manganese-chelating agents, iron supplementation, or their combination might improve symptoms and prevent progression of this otherwise potentially fatal disease. © 2015 International Parkinson and Movement Disorder Society.

Emerging new trends of malaria in children: a study from a tertiary care centre in northern India.

BACKGROUND & OBJECTIVES: Vivax malaria has long been considered a benign entity. However, an increasing number of reports are highlighting that it may no longer be so. An investigation was carried out to study the profile of malarial admissions in a tertiary care pediatric hospital and to analyse the burden of vivax-related complications. METHODS: It is a retrospective observational study. The medical case records of all the patients admitted in the year 2011 with the clinical diagnosis of malaria and laboratory evidence in the form of positive peripheral smear and/or rapid malarial antigen test were retrieved and retrospectively analysed. RESULTS: Overall, 198 cases were included, 128 (64.6%) were due to Plasmodium vivax, 66 (33.3%) due to P. falciparum and 4 (2%) had evidence of mixed infection of Pv + Pf. The clinical features on admission were similar in all the groups. In total, 64/128 (50%) patients with vivax infection had one or more complications with severe anemia in 33 (26%) and cerebral malaria in 16 (12.5%). Six deaths were reported in P. vivax cases. In the falciparum group, 52 (78.8%) had one or more complications with severe anemia in 37 (56.1%) and cerebral malaria in 24 (36.4%). Four deaths were reported in P. falciparum cases. INTERPRETATION & CONCLUSION: Overall because of their larger numbers, vivax patients outnumbered other groups, with regards to severe complications and deaths. It was concluded that vivax malaria is emerging as an important cause of malaria-related complications in children.

Etiology and Short-term Outcome of First Seizure in Hospitalized Infants.

We enrolled 75 consecutive infants presenting with history of first seizure at a tertiary care hospital in New Delhi, India. Clinical and biochemical work-up for etiology, and electroencephalography were performed in all infants. Developmental assessment was done 3-month after discharge. 72% had generalized seizures, and fever was the commonest co-morbidity (57.3%). 68% had provoked seizures, mainly due to hypocalcemia (34.3%) or neuro-infections (29.3%). Seven (9.3%) infants died during hospital stay; mostly those with neuro-infections. 13 (20.3%) infants had developmental delay.

Vitamin B12 deficiency in children: a treatable cause of neurodevelopmental delay.

Vitamin B12 deficiency in children can rarely cause neurologic manifestations. In this series, 14 pediatric cases (median age 11 months) have been described in whom association of vitamin B12 deficiency with developmental delay or regression was observed. Severe to profound delay was present in 8 (57%) patients. All the patients were exclusively or predominantly breast-fed and 10 of 12 mothers had low serum vitamin B12 levels. Three to 6 months after treatment, a mean gain of development quotient of 38.8 points was seen in 7 follow-ups. In settings with a high prevalence of vitamin B12 deficiency, this association should be actively searched for.

Benign infantile seizures.

BACKGROUND: Benign infantile seizures are a common form of idiopathic seizures in infants, but infrequently reported. CASE CHARACTERISTICS: Four cases identified over a 9-month period. OBSERVATION: All had a cluster of focal seizures, normal development and no abnormality on hematological and biochemical work-up. OUTCOME: No recurrence of seizures over a follow-up of 5 to 9 months. MESSAGE: Identification of this syndrome has important therapeutic and prognostic implications.

Neurocysticercosis in children: clinical findings and response to albendazole therapy in a randomized, double-blind, placebo-controlled trial in newly diagnosed cases.

The clinical findings of neurocysticercosis, diagnosed primarily on the basis of computed tomography (CT), and response to albendazole therapy in a randomized, double-blind, placebo-controlled trial were studied in 72 newly diagnosed children aged 1.5-12 years admitted to hospital in New Delhi, India, during March to July 2000. The lesions by initial CT were mostly single with perilesional oedema, and were located in the parietal lobes. The most common clinical finding was partial seizure (79.2%). The outcome of the albendazole trial was assessed through changes in CT lesions and status of seizure after 6 months of follow-up; about 55% of the lesions had disappeared and about 80% of the children were seizure-free. The frequency of healing of CT lesions in the albendazole-treated group and placebo group was 54.2% and 55.2%, respectively, and the frequency of a seizure-free state in the albendazole-treated group and placebo group was 87.5% and 77.5%, respectively; the differences were not statistically significant. Changes in lesions by CT and the recurrence of seizures after 6 months of follow-up were not related to the number of lesions by initial CT and albendazole was not beneficial in neurocysticercosis in children with ring-enhancing lesions in CT.

'Reflex' HPLC testing as a screening modality for variant hemoglobins: a pilot study of 1310 cases at a pediatric referral hospital.

OBJECTIVE: High-performance liquid chromatography (HPLC) has been evaluated as useful technique for detection of variant hemoglobins in newborn screening, ethnicity-based screening, and patients with abnormal hemoglobin electrophoresis. This study aimed at evaluating this technique as 'reflex' testing in a pediatric referral center. METHODS: This study included 1317 children visiting the pediatric hospital, who underwent HPLC analysis on anticoagulated blood samples. These patients were divided into clinician-requisitioned HPLC (group A), 'reflex' testing for anemia (group B), and unrelated etiologies (group C). HPLC graphs were evaluated for various hemoglobins. Statistical analysis was performed for comparison between these groups for frequency of abnormal HPLC assay and various red cell parameters. RESULTS: The frequency of abnormal HPLC assay was 22.89% in group A (125 of 546 cases), 26.89% in group B (78 of 290 cases), and 31.8% in group C (153 of 781 cases) with statistically significant difference. The most frequent variant in all three groups was thalassemia trait. Thalassemia intermedia and major, both were detected in few patients in groups B and C. CONCLUSION: 'Reflex' testing for hemoglobin variants can be undertaken for pediatric samples to enhance detection of these variants and avoid an additional venepuncture.

A rare neurological complication of typhoid fever: Guillain-Barre' syndrome.

Guillain-Barre' syndrome is a rare complication of typhoid fever, and only a few such cases have been reported in the pediatric age group. We report a young boy with blood culture proven typhoid fever that developed this very rare neurological complication quite early in the course of the disease. Following treatment with intravenous antibiotics and intravenous immunoglobulin, he improved.

Efficacy of buccal midazolam compared to intravenous diazepam in controlling convulsions in children: a randomized controlled trial.

A study was done to examine the efficacy of buccal midazolam in controlling convulsion in children by comparing it with intravenous diazepam, a standard mode of treating convulsions. One hundred and twenty cases presenting with convulsions to emergency were treated randomly with either buccal midazolam (in a dose of 0.2mg/kg) or intravenous diazepam (in a dose of 0.3mg/kg). Partial seizures, generalized tonic, clonic and tonic-clonic convulsions were included irrespective of duration or cause. One episode per child only was included. The frequency of overall control of convulsive episodes within 5 min were 85% and 93.3% in buccal midazolam and intravenous diazepam groups, respectively; the difference was, however, not statistically significant (p=0.142). The mean time needed for controlling the convulsive episodes after administration of the drugs was significantly less with intravenous diazepam (p=<0.001). The mean time for initiation of treatment was significantly less with buccal midazolam (p=<0.001). The mean time for controlling the convulsive episodes after noticing these first were significantly less with buccal midazolam than with intravenous diazepam (p=0.004) that is likely to be due to longer time needed for initiating treatment with intravenous diazepam in preparing the injection and establishing an IV line. There was no significant side effect in both the groups. The findings suggest that buccal midazolam can be used as an alternative to intravenous diazepam especially when getting an IV line becomes difficult. In situations where establishing an IV line is a problem, buccal midazolam may be the first choice.

Clinico-etiological and EEG profile of neonatal seizures.

OBJECTIVE: To evaluate clinical, etiological and EEG profile of neonatal seizures. METHODS: In all the neonates enrolled in the study baseline information recorded was sex, gestational age, weight, ponderal index etc. Clinical profile of seizure episode included age at onset of seizure, type and duration of seizure, associated autonomic changes, medication given, response time to medication and possible cause. Relevant maternal history including antenatal and peripartum history was recorded. Relevant history and examination of newborn were noted. Essential investigations done in all subjects included blood glucose, serum calcium, serum sodium and arterial pH. USG cranium and EEG were done at earliest in all the subjects wherever feasible. Additional investigations were done as guided by history, physical examination and essential investigations. RESULTS: Ninety babies with clinical seizures were enrolled into the study over one year period with an overall incidence of 1.17% (0.69% in term babies and 6.14% in preterm babies). Abnormal EEG's were found in one third cases out of 60 EEG's done in 90 babies. 26.7% of babies with perinatal asphyxia had abnormal EEG's (8/30). While 60% of babies with HIE II had abnormal discharges, background activity was suppressed in 66.66% EEG's in babies with HIE III. CONCLUSIONS: Overall incidence of neonatal seizures was 11.7/1000 live births, majority being preterm very low birth weight babies before 5 days of life. Perinatal asphyxia was responsible in 44.44% babies followed by metabolic abnormalities (23.33%). EEG abnormalities were present in 33.34% babies.

Hemobilia complicating a liver abcess.

We present the case of an 11-year-old female, with a history of colicky pain abdomen fever, and episode of massive hematemesis and melena. The child was presented to the medical emergency with features of shock. Coagulation profile of the child was normal. Ultrasonography demonstrated multiple liver abscess. Repeated endoscopies ruled out the possibility of gastric or upper gastrointestinal causes of bleed where in the possibility of hemobilia, was considered. Endoscopic retrograde cholangiography demonstrated the presence of bleeding from the biliary tract. Angiography demonstrated the presence of the communication of the biliary radicles with the hepatic vessels and also aided with therapeutic embolization. Hemobilia is a rare cause of upper gastrointestinal hemorrhage with an increasing incidence because of the widespread use of invasive hepatobiliary procedures and improved recognition. In the majority of cases the cause is iatrogenic and those associated with the liver abscess are scantily reported in the English literature. Persistent bleeding sometimes requires urgent therapeutic intervention, such as angiography or surgery.

Neurocysticercosis in children: clinical characteristics and outcome.

A study was undertaken on 176 children with neurocysticercosis to determine the clinical behaviour and long-term outcome of cases. The children were followed up prospectively in the paediatric neurology clinic for 6 years. Diagnosis was based primarily on CT scans. All the CT lesions were parenchymal and mostly single (87%) with ring enhancement and peri-lesional oedema. Partial seizure was the predominant presenting seizure type. About 65% of cases had recurrences at varying intervals during treatment. Albendazole therapy given to some cases did not appear to have any beneficial effect on seizure control. Repeat CTs done at varying intervals after the first seizures showed disappearance of the lesions in about 50% of cases. The majority of lesions disappeared without the use of albendazole. Recurrence of seizures after withdrawal of anti-epileptic medication was observed in 19% of the cases. Parenchymal neurocysticercosis in children commonly presents with partial seizures and ring lesions on CT. The disease can be managed well by anti-epileptic medication alone and the prognosis is good.