Milind S. Tullu

Performance of PRISM (Pediatric Risk of Mortality) Score and PIM (Pediatric Index of Mortality) Score in a Tertiary Care Pediatric ICU

ObjectiveTo validate Pediatric Risk of Mortality (PRISM) and Pediatric Index of Mortality (PIM) score.MethodsAll consecutive patients over a six month period were included in the study except patients with a PICU stay of less than 2 hours, those transferred to other PICUs, pediatric surgical cases, trauma patients and those dying within 24 hours of admission. The PRISM and PIM scores of all patients included in the study were computed and the outcome was noted in terms of survival or non-survival. Mortality discrimination was quantified by calculating the area under the receiver operating characteristic (ROC) curve. Hosmer and Lemeshow goodness-of-fit test was used to calibrate the scores.ResultsTwo hundred and thirty patients were enrolled with mean age of 40.6 months and male to female ratio of 1.2:1. There were 56 deaths (mortality rate 24.3%). The mortality in infants was higher (37.8 %) as compared to non-infants (16.2 %) (p = 0.011). The predicted deaths with PRISM score was 24.3%. The area under the ROC curve was 0.851 (95% CI 0.790–0.912). The Hosmer and Lemeshow goodness-of-fit test showed good calibration (p=0.627, chi square =1.75, degree of freedom = 3). The predicted deaths with the PIM score was 7.38%. The area under the ROC curve for PIM score was 0.838 (95 % CI 0.776–0.899). The Hosmer and Lemeshow goodness-of-fit showed a poor calibration for PIM score (p = 0.0281, chisquare = 10.866, degree of freedom = 4).ConclusionBoth PRISM and PIM scores have a good discriminatory performance. The calibration with PRISM score is good but the PIM score displays poor calibration.

Kocher-Debre-Semelaigne syndrome: Hypothyroidism with muscle pseudohypertrophy

Kocher-Debre-Semelaigne syndrome is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report two cases of this syndrome in this communication. The first case was a seven-years-old female who presented with features of hypothyroidism and muscle pseudohypertrophy. The second child had similar manifestations but was only fifteen months of age at diagnosis. This is one of the youngest patients reported to have the Kocher-Debre-Semelaigne syndrome. A short review of the literature is also presented.

Mondini dysplasia and pyogenic meningitis.

Mondini dysplasia with cerebrospinal fluid leak is a rare cause of recurrent pyogenic meningitis in children. We describe an eleven-year-old female child who presented with the fifth recurrent episode of pyogenic meningitis and unilateral sensorineural deafness. Mondini dysplasia of the inner ear with CSF-perilymph fistula was proven on an HRCT of the temporal bone and MRI. Successful operative intervention was undertaken to close the defect. Though rare, Mondini dysplasia should be considered as a cause of recurrent meningitis in children, especially if they have sensorineural deafness

Rabson-mendenhall syndrome

Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.

Isolated infective endocarditis of the pulmonary valve: an autopsy analysis of nine cases.

INTRODUCTION Infective endocarditis (IE) of the pulmonary valve is uncommon and usually occurs in conjunction with tricuspid and/or left-sided valvular endocarditis. There have been only sporadic reports of isolated pulmonary valvular infective endocarditis (PVIE). This report documents the pathological features of nine such cases at autopsy. METHODS Among 155 cases of IE encountered in a 14-year period, we selected nine cases that had isolated PVIE for analysis. The clinical records were reviewed for the patient demographics, presence or absence of underlying cardiac disease or other predisposing factors, and modes of presentation; these were correlated with the relevant investigations. A detailed study of the heart was done in all with special attention to the pulmonary valve morphology. RESULTS The nine cases of isolated PVIE formed 5.8% of the IE cases, seen in six males and three females, largely adults. Seven patients (77.8%) had admissions for about 24 h. Hospital admission was sought for mainly progressive shortness of breath (66.7%) and fever (44.4%). Congenital heart disease was seen in seven (77.8%); two (an infant and an adult) had normal hearts. A single blood sample for blood culture in two patients was negative. Two-dimensional echocardiography, performed in eight, revealed vegetations on the pulmonary valve in four. The pulmonary valve was tricuspid in six cases, bicuspid in two, and unicuspid in one. The vegetations (active in three, active and healing in two, healed in four) were accompanied by concomitant thickening, shortening, perforations, or complete destruction of the cusps. Involvement of the right ventricular outflow tract or the main pulmonary artery was identified in five hearts. Five patients (55.6%) developed pulmonary complications, related to the endocarditis. CONCLUSIONS Detection of PVIE, especially the isolated type, may be underdiagnosed. This condition should be kept in mind during evaluation of patients especially with cardiac anomalies, who present with fever, prominent respiratory symptoms, and negative blood cultures.

Kocher-debre-semelaigne syndrome with pericardial effusion

We report a 10-year-old female child with hypothyroidism and limb muscle pseudohypertrophy (i.e., Kocher-Debre-Semelaigne syndrome) with pericardial effusion. The child presented with generalized swelling, breathlessness and difficulty in walking and in getting up from sitting position (of chronic duration). She had bradycardia, dull facies, marked hypertrophy of both calf muscles and nonpitting edema of legs. Pericardial effusion was detected clinically and confirmed on investigations. Muscle pseudohypertrophy was a striking feature, and hypothyroidism was confirmed on thyroid studies. The response to thyroxine replacement was excellent, with resolution of the pericardial effusion and clinical improvement. The unusual presence of pericardial effusion in Kocher-Debre-Semelaigne syndrome is discussed in the report.

Atresia of the common pulmonary vein--a rare congenital anomaly.

OBJECTIVES Early atresia of the common pulmonary vein (ACPV) leads to total anomalous pulmonary venous drainage, while late atresia or incomplete absorption leads to common pulmonary vein atresia and cor triatriatum sinister (both of which are rare). We report seven cases of atresia of the common pulmonary vein at autopsy. DESIGN Retrospective case records studied. SETTING Tertiary care teaching hospital affiliated to medical college in Mumbai, India. PATIENTS AND METHODS The clinical and autopsy records of neonates and infants diagnosed with ACPV over a period of 11 years were reviewed. The demographic data, clinical features, and results of investigations were correlated with the cardiac findings at necropsy. RESULTS Seven neonates and infants (five males and two females) had ACPV. Six babies presented at birth and expired within 48 hours. They had a homogeneous group of symptoms of cyanosis since birth with respiratory distress and/or features of congestive cardiac failure. One had perimembranous ventricular septal defect with bicuspid pulmonary valve and atresia of aortic valve. Two had dysmorphic facial features suggestive of Downs syndrome. Isolated ACPV was seen in only two patients. Asplenia syndrome was seen in three patients. Marked dilatation of the pulmonary lymphatics was identified in three patients. CONCLUSIONS Early atresia of the common pulmonary vein, an extremely rare abnormality, manifests in early infancy/neonatal period and needs urgent corrective surgery. It is associated with other congenital heart disorders and extracardiac manifestations as well.

Human immunodeficiency virus (HIV) infection in a child presenting as acute disseminated encephalomyelitis.

Acute disseminated encephalomyelitis is an extremely rare occurrence in human immunodeficiency virus (HIV) infection. We describe an 8-year-old male child who presented with weakness of both lower limbs for 10 days and focal convulsions for 2 days. The child had left, upper motor neuron facial palsy, lower limb hypotonia, and exaggerated deep tendon reflexes. Enzyme-linked immunosorbent assay antibodies for HIV tested positive and the CD4 count was 109 cells/µL. The magnetic resonance imaging (MRI, brain) revealed extensive confluent hyperintensities (on T2-weighted images) in left parietal, right temporal, and right occipital regions of the white matter, and similar signals were seen in right lentiform nucleus and right posterior thalami, suggesting acute disseminated encephalomyelitis. There was transient improvement with intravenous methyl prednisolone. The patient succumbed to the illness. Perinatally transmitted pediatric HIV infection presenting with acute disseminated encephalomyelitis has not yet been reported in the medical literature.

Congenital and Inherited Ophthalmologic Abnormalities

Objective : To identify genetic disorders associated with ophthalmologic abnormalities; type and frequency of various ophthalmologic abnormalities associated with selected genetic and inherited disorders; and devise a suitable classification for ophthalmologic abnormalities.Methods : Pediatric cases referred with mental retardation, congenital malformations and suspected genetic and metabolic disorders were enrolled prospectively. Relevant clinical details (including an ophthalmologic examination) and investigations were recorded.Result : Of the 1308 patients enrolled, 679 (51.9%) had ophthalmologic abnormalities. 458 cases (67.45%) out of these 679 had mental retardation and 20 (2.94%) had neuroregression. Environmental (12.22%) and chromosomal anomalies (10.9%) were the largest etiological groups. Down syndrome was the commonest of the chromosomal anomalies and mongoloid slant and epicanthic folds were its commonest ophthalmologic features. Mucopolysaccharidoses (21.4%), Wilson disease (19.64%), oculocutaneous albinism (16.07%) and lipid storage disorders (14.29%) were the most common inborn errors of metabolism associated with ophthalmologic abnormalities. Of the 39 cases with Mendelian inheritance of disorders, autosomal dominant disorders (56.41%) were the commonest associated with ocular abnormalities. A simple anatomical classification has been devised for various ophthalmologic abnormalities encountered (wherein, positional and adnexal abnormalities were the commonest).Conclusion : Upto 50% of cases referred to the genetic services have ophthalmologic abnormalities. Conditions including chromosomal abnormalities, metabolic disorders, Mendelian syndromes and environmental factors are associated with ocular abnormalities. Anatomically, positional and adnexal abnormalities are the commonest.

Pulmonary arteriovenous malformations

Pulmonary arteriovenous malformations rarely present in childhood. Two cases are presented in this report. Both the cases presented clinically with cyanosis and clubbing without a cardiac murmur. The second case had cerebral abscess in addition. Both the cases underwent a contrast-enhanced echocardiography which suggested the presence of pulmonary arteriovenous malformations. The first case also underwent99mTc radionuclide scan and pulmonary angiography. The cases are being reported for their characteristic clinical features and for emphasizing the role of non-invasive modalities like contrast-enhanced echocardiography and radionuclide scan in reaching the diagnosis.