Disseminated infection with Cryptococcus neoformans var neoformans in an 8 years immunocompetent girl.

Disseminated cryptococcosis is a rare and often fatal disease in children. The majority of cases usually occur in individuals with defective cell-mediated immunity, most commonly due to HIV infection. The authors here in report an 8-year-old girl from Nepal who presented with fever, cough, headache, lymphadenopathy, hepatosplenomegaly and cutaneous lesions. Lymph node biopsy revealed multiple granulomas composed of histiocytes and epitheliold cells along with numerous yeast forms of cryptococcus. Cultures of CSF, sputum and urine yielded cryptococcus neoformans. Surprisingly,the immune function in terms of T-cell number, CD4 : CD8 ratio, serum immunoglobulins and HIV serology was normal. After the diagnosis of disseminated cryptococcosis was established, the patient was treated with 5-fluorocytosine (100 mg/kg/day) for initial two weeks and amphotericin B (1 mg/kg/day) for 13 weeks. Patient responded well to the treatment with disappearance of presenting symptoms, cutaneous lesions, and lymphadenopathy, though she still had hepatosplenomegaly, which also decreased. Unfortunately, she developed loss of vision in 10th week of therapy. The patient was discharged on oral fluconazole (6 mg/kg/day) and no recurrence was found during the follow-up period of more than 9 months. This is the first case of disseminated cryptococcosis with no detectable immune deficit, from India.

Bjornstad syndrome.

A 9-month-old boy presented with the complaints of loose motion, vomiting and difficulty in breathing. His scalp hairs were thin, brittle, and sparse and were of differing lengths with twisted appearance. Hair shaft microscopy revealed alternate light and dark segments and twisting of the hair shafts by 180 degrees along the axis. Serum copper levels were normal. The audiological testing revealed bilateral sensorineural hearing loss. Child was diagnosed as a case of Bjornstad Syndrome.

Henoch schonlein purpura with rheumatic carditis.

Henoch Schonlein Purpura with acute rheumatic carditis is a rare entity and only few cases have been reported. An 8 year-old-girl presented with abdominal pain, arthralgia and rashes and was diagnosed as a case of Henoch Schonlein Purpura. She was managed conservatively and discharged. She was readmitted after 1 week with abdominal pain, fever and cough. She developed tachycardia with gallop rhythm on the third day of admission and pansystolic murmur of mitral regurgitation. Echocardiography showed features of myopericarditis, mild pericardial effusion and mitral regurgitation. She was diagnosed and managed as a case of acute rheumatic carditis.

Progressive bulbur paralysis (Fazio-Londe disease).

Progressive bulbar paralysis of childhood is characterised by progressive paralysis of muscles innervated by cranial nerves. The authors report a case of progressive bulbar paralysis of childhood in a 12-year-old child. Child was admitted with the complaints of drooping of eyelids, difficulty in swallowing and hoarse voice. She had involvement of III, VII, IX, X, XI and XII cranial nerves and the corticospinal tracts. Electromyography revealed spontaneous activity in the form of fasciculations, giant motor unit potential and discrete recruitment of motor neurons suggestive of denervation pattern. Hearing assessment was normal. Muscle biopsy was also suggestive of neurogenic atrophy.

Iron supplementation in children with celiac disease.

OBJECTIVE: To evaluate the effect of iron supplementation, in addition to gluten free diet (GFD), on hematological profile of children with Celiac Disease (CD). METHODS: Children diagnosed as CD as per modified ESPGAN criteria were prospectively evaluated for their hematological profile at the time of their enrolment and after consuming GFD for at least one year. The results were compared with age and sex matched controls. Evaluation of hematological profile included hemoglobin estimation, complete blood counts, peripheral blood smear examination, serum iron, total iron binding capacity (TIBC), and serum ferritin estimation. All the enrolled cases were given iron supplementation in addition to exclusion of gluten from their diet. Repeat intestinal biopsy was performed in all the cases after completing 1 year on GFD. RESULTS: Twenty one children (mean age 6.67 years, range 4-11 years) diagnosed as CD who completed at least one year of regular follow up on GFD (mean 1.5 years, range 1-2 years) were analysed for their hematological profile at the time of enrolment and after consuming GFD and iron supplementation. At the time of enrolment all the children had hemoglobin level <11 gm%, 78% had microcytic hypochromic anemia and 22% had dimorphic anemia, with lower mean MCV, MCH and serum ferritin levels, and a significantly higher mean TIBC as compared to controls (p<0.001). In the follow up evaluation of these cases on GFD, mean hemoglobin levels were comparable with controls but the cases continued to have lower mean MCV, MCH serum ferritin levels (p<0.05) and higher mean TIBC (p<0.05). Seven children had mild anemia. Serum ferritin levels showed a negative correlation with the grade of villous atrophy and lamina propria infiltrate. CONCLUSION: Our results suggest that iron deficiency anemia (IDA) is commonly associated with CD and iron deficiency state continues for a longer time even after excluding gluten from the diet and iron supplementation. Apart from offering them GFD rich in iron, early detection and treatment of IDA and prophylactic iron folic acid supplementation will go a long way to optimize their mental and psychomotor functions.

Clinical and nutritional profile of children with celiac disease.

This prospective study was aimed to evaluate the clinical and nutritional profile of children diagnosed as celiac disease (CD) as per the modified ESPGAN criteria, at the time of diagnosis and after institution of gluten free diet. Out of 65 enrolled cases of CD, 7 (10.8%) children did not follow a strict dietary compliance. Only 41 children with satisfactory dietary compliance on gluten free diet (GFD) who regularly attended the follow up for at least 6 months were evaluated for their nutritional and hematological status. Results were compared with age and sex matched controls. The mean age of diagnosis was 8.7 +/- 3.3 years. Diarrhea and failure to thrive were the most common presenting symptoms. At diagnosis, the nutritional and hematological indices were significantly lower in patients than in controls. Mean duration of follow up on GFD was 22 months (range 6-48 +/- 5.6 months). On follow up, height for age Z score was significantly lower, mean BMI was significantly higher, and weight for age Z score, weight for height Z score (%), mean triceps and biceps skin fold thickness, and mid arm circumference were comparable to controls. At diagnosis, 80% cases had microcytic hypochromic anemia and 20% had dimorphic anemia. On GFD for at least a period of more than 6 months, 19% had microcytic anemia and in 81% the hematological picture was normocytic normochromic. 60% cases had thrombocytosis at diagnosis in comparison to 2.3% after treatment. Institution of GFD leads to rapid improvement in clinical picture as well as most of the nutritional and hematological parameters.

Cladosporium bantianum meningitis in a neonate.

Cladosporium bantianum meningitis has been reported mostly in adult farmers between 20 and 30 years of age. We report a 6-day-old male neonate who was admitted with fever, focal seizures and not accepting feeds. Initial investigations suggested a diagnosis of pyogenic meningitis but antibiotic therapy for 14 days did not result in any significant clinical improvement. Repeat CSF examination after 14 days suggested a diagnosis of C. bantianum meningitis which was supported by presence of multiple abscesses in the cerebral cortex on CT scan of the head and confirmed by CSF culture. Clinical response to antifungal therapy remained unsatisfactory.

Diagnostic modalities for gastroesophageal reflux.

OBJECTIVE: To evaluate commonly utilized diagnostic modalities to detecting Gastroesophageal Reflux (GER). METHODS: Sixty children aged 1-72 months (mean age 14.7 months) with symptoms suggestive of Gastroesosphageal Reflux (GER) were investigated and subjected to upper gastrointestinal endoscopy and esophageal biopsy (EB), gastroesophageal scintiscanning (GS) and 24 hour ambulatory pH monitoring. RESULT: GER was detected in 28 (46.7%) cases by one or more diagnostic modalities. Ambulatory 24 hour pH monitoring was positive in higher proportion (43.3%) of cases in comparison to other modalities, followed by EB (38.3%) and GS (30%). Considering 24 hour pH monitoring as the gold standard, esophageal biopsy was positive in 22/26 cases (84.6%) detected by 24 hour pH monitoring with a specificity of 97.1% as compared to 17/26 cases (65.4%) by gastroesophageal scintiscanning with a specificity of 97.1%. When compared with EB results, amongst various parameters measured during 24 hour pH monitoring, Reflux index (RI) ranked highest (sensitivity 95.6 % and specificity 89.2 %) followed by duration of longest episode > 20 minutes and Euler Byrne score. Oscillatory index, calculated from tracings of pH monitoring, even though ranked lower because of its low sensitivity helped to pick up 2 cases missed by EB and RI. CONCLUSION: Our results suggest that a combination of diagnostic modalities may be required to diagnose GER in young children. Ambulatory 24 hour pH monitoring appears to be the single best investigation and combining it with EB and/or GS can help to detect maximum number of cases.

Feeding problems in children with cerebral palsy.

OBJECTIVE: To determine the magnitude and extent of feeding problems in children with cerebral palsy (CP) and to evaluate the effectiveness of nutritional interventions. DESIGN: Prospective hospital based interventional study. METHOD: Children with cerebral palsy of either sex were enrolled randomly and their parents were interviewed for their perception about feeding problems, nutritional status and for their views about the expected outcome of feeding problems. Each case was assessed for feeding problems based on Gisel and Patrick feeding skill score; for nutritional status by measurement of weight, skinfold thickness (at biceps, triceps, suprailiac and subscapular), mid arm circumference and caloric intake; neurologically for type and severity of cerebral palsy and for developmental age by Gasell s developmental scale. Equal number of age and sex matched controls were included for comparison of nutritional status and developmental quotient. Various rehabilitation procedures were applied and their response was observed in the followup ranging from 3-10 months. RESULTS: One hundred children (76 boys and 24 girls) with cerebral palsy of mean age 2.5 years (range 1 to 9 years) and mean developmental age of 7.6 months (range 1 to 36 months) were included in the study. Oral motor dysfunction (OMD) was found in all cases and in each category. Spastic quadriplegic cerebral palsy (SQCP) and hypotonic patients had significantly poor feeding skill score (p < 0.001). Mean duration of feeding session was 31.5 minutes (range 10-60 minutes). Main food of children with cerebral palsy consisted of liquid and semisolid diet. Children with poor OMD were unable to take solid food. Cases with seizures had significantly more feeding problems than those without seizures (p < 0.001). Parental awareness about feeding problems of their children was significantly low and they overestimated the nutritional status of their children. Anthropometric indicators were significantly lower than controls (p < 0.001). Spastic quadreparesis, hypotonia and poor feeding skill score had negative effect on nutritional status. Thirty per cent parents of cerebral palsy patients were pessimistic about the possibility of any improvement in feeding problems. After nutritional rehabilitation, good improvement was seen in feeding problems, OMD and nutritional status. CONCLUSION: Nutritional status of children with cerebral palsy is poor due to summation of several factors. Therefore, they should be thoroughly assessed for feeding problems and nutritional status in order to start timely nutritional rehabilitation which can significantly improve their nutritional status and quality of life.

Brush cytology: an adjunct to diagnostic upper GI endoscopy.

Endoscopic brush cytology (EBC) was performed in antral and duodenal brushings of children subjected to upper GI endoscopy for the detection of H. pylori (Hp) and trophozoites of Giardia lamblia (Glt) in addition to routine endoscopic grasp biopsy (EGB). It was hospital based prospective study. EBC was performed in children subjected to upper GI endoscopy with a sheathed cytology brush. Mucosal brushings were collected from antrum, body of the stomach and second or third part of duodenum by gently rubbing the surface of the brush with the mucosal wall in all the directions, brush withdrawn and brushings performed on a glass slide. The smears were placed in 95% ethyl alcohol and later examined for Glt and Hp using Giemsa and Hematoxylin & Eosin stain. EGB was taken from antrum, body of the stomach and duodenum from sites other than those used for brushings. One hundred and seventy children between 1-13 years (median age = 5 years) were subjected to upper GI endoscopy for malabsorption (n = 94), recurrent abdominal pain (n = 49), failure to thrive (n = 16) and recurrent vomiting/regurgitation (n = 11) and EBC was performed in addition to routine EGB. Thirty five children (20.4%) were colonized by Hp, 14 (8.2%) were detected to have Glt and in 6 cases (3.5%) both Hp as well as Glt were detected. Out of 41 cases colonized by Hp, 24 cases (58.5%) were detected by EGB and 27 cases (65.8%) were detected by EBC. Out of 20 children in whom Glt were detected from their duodenum, the detection was by EBG in 12 cases (60%) and by EBC in as many as 19 cases (95%). Comparison of EGB and EBC suggested that detection rates with EBC were higher than EGB. Detection by EBC was significantly higher for Glt than Hp. There were no complications attributed to EBC and procedure time for endoscopy was not significantly prolonged. On the contrary, detection of Hp and particularly Glt in higher proportion of cases with the help of EBC was helpful in their appropriate management. Our results suggest that EBC is a safe and useful tool to enhance the value of diagnostic endoscopic procedure when used in combination with routine EGB.

Goldenhar syndrome with rare associations.

Goldenhar syndrome is a malformation complex involving the structures arising from first and second branchial arches, the first pharyngeal pouch, first branchial cleft and primordia of the temporal bone. Though the syndrome itself is not very rare, the presence of polydactyly and hydrocephalus, which are rare associations, prompted us to report this case.

Study of diagnostic modalities and pathology of Helicobacter pylori infection in children.

To evaluate various diagnostic tests for Helicobacter pylori (Hp) in children, and to study the spectrum of endoscopic and histological changes in the stomach and duodenum of children with gastroduodenal disorders, associated with Hp infection Children below 12 years of age with various gastroduodenal disorders requiring upper gastrointestinal endoscopy were studied. Endoscopic biopsy specimens were collected from duodenum and antrum. Apart from histopathological examination of biopsy material, rapid urease test (RUT) of the antral biopsy specimen and blood examination to estimate specific IgG antibodies to Hp by Indirect Solid Phase Enzyme Immunoassay was performed. Forty seven children were included. Nine (19.1%) of them were positive both by serology and RUT. Seven (14.9%) were positive by histology. A significant correlation of Hp was noticed with chronic antral gastritis (p = 0.002) and chronic duodenitis (p = 0.006). Age equal to or more than 10 years was found to be significant risk factor for acquiring Hp infection. Prevalence of Hp in children with gastroduodenal complaints was found to be 19%. Both RUT and serology were found to be reliable diagnostic tests for Hp as compared with histology. Antral gastritis and chronic duodenitis had a significant correlation with Hp colonization.