Biomedical subjects
Publications and source records attributed to Milind S Tullu.
We report a paradoxical occurrence of left ventricular thrombus due to endomyocardial fibrosis in a six years male child diagnosed as Glanzmann thrombasthenia. Such an association has not been reported in literature.
Pulmonary arterial endarteritis is a rare event even in patients with congenital heart disease. In this paper, the authors report two cases of pulmonary endarteritis diagnosed at autopsy. The first was a 3-month-old male infant with absence of congenital heart defect (who had had neonatal sepsis). This patient presented with pneumonia and succumbed within 36 hours of hospital stay despite appropriate antimicrobial therapy and supportive management. The second patient was a 13-month-old male child with previously undiagnosed tetralogy of Fallot who had clinical presentation of acute meningitis with convulsions and succumbed within 12 hours of hospital stay despite adequate treatment. The main autopsy findings were chronic arteritis of the pulmonary trunk and right pulmonary artery in the former and rupture of the pulmonary trunk in the latter.
Hydatid cysts occur commonly in lungs in the pediatric age group. Though medical management has been tried, definitive management of the condition is essentially surgical. Use of video-assisted thoracic surgery (VATS) has been rarely employed for the management of pulmonary hydatid cysts. We present a 10-year-old boy with pulmonary hydatid cysts treated with VATS-assisted minithoracotomy with hydatid cyst enucleation and capitonnage. The patient developed a lung abscess postoperatively and had to undergo lobectomy. The surgical management of pulmonary hydatid cysts is discussed here. The role of minimal access therapy for pulmonary hydatid cysts is highlighted.
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.
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.
Viscerohepatodiaphragmatic interposition or Chilaiditi's syndrome is a rare congenital anomaly characterised by subphrenic displacement of the intestine resulting from a congenital anomaly of the hepatic ligaments. A six-year-old asymptomatic girl was screened for tuberculosis as her father was suffering from sputum-positive pulmonary tuberculosis. The chest radiograph showed normal lung fields, but a gaseous shadow was seen beneath the right dome of the diaphragm, which was confirmed, to be a case of Chilaiditi's syndrome on abdominal radiographs and ultrosonography. Although initially thought to be a benign condition, Chilaiditi's syndrome has been cited to be an important cause of acute abdomen. It is, therefore, important that the clinicians are aware of the condition when treating such a child.
Phakomatoses or neurocutaneous syndromes are an important cause of seizures in the pediatric age group. The Sturge-Weber syndrome may affect the eye, skin and brain at different times. The skin lesions need not always manifest. We report a case of isolated affection of the central nervous system in a case of Sturge-Weber syndrome in the absence of ocular or cutaneous manifestations. Our case qualifies to be called incomplete monosymptomatic leptomeningeal angiomatosis.
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: Up to 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.
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.
Explore the source record for details and available documents.
Case records of HIV infected patients were analyzed for identifying neurological manifestations. Eight patients (7 males) were identified to have probable HIV encephalopathy (in a period of 24 months) as per the CDC revised classification system. Their ages ranged from one year to ten years. The neurological manifestations noted included-developmental delay (2 cases), seizures (6 cases), acute onset alteration of sensorium (4 cases), aphasia (2 cases), loss of vision (2 cases), focal neurological deficits (6 cases), brisk deep tendon reflexes (7 cases), extensor plantar responses (5 cases) and signs of cerebellar dysfunction (2 cases). Other clinical features included growth failure, microcephaly, fever, lymphadenopathy, hepatomegaly, splenomegaly, pneumonia, otorrhea and oral candidiasis. Cerebrospinal fluid studies were normal. The neuroimaging features included cerebral atrophy and ventricular dilatation, cerebral infarction, basal ganglia calcification and cerebellar atrophy. Childhood HIV infection may have a variety of neurological abnormalities. HIV infection should be suspected in children presenting with unexplained neurological manifestations and growth failure.
Syndromic paucity of bile ducts or "Alagille syndrome" is characterized by peculiar facies, chronic cholestasis, posterior embryotoxon, butterfly-like vertebral arch defects and peripheral pulmonary artery hypoplasia or stenosis. We present a two-year-old female child with the 'partial' or 'incomplete' Alagille syndrome. The child had three of the five major features of the syndrome. A brief review of literature of the syndrome is presented.
Soto's syndrome, also known, as cerebral gigantism is a rare syndrome characterized by large size, large head and early psychomotor delay. Major diagnostic criteria include facial dysmorphisms, advanced bone age and developmental delay. Herein, a case of Soto's syndrome with rare finding of bilateral hydronephrosis and hydroureters is being reported.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
BACKGROUND: Our objective was to study demographic features, clinical features, and karyotype analyses of patients with Down syndrome (DS). Our study design was a retrospective analysis, while the study was conducted in the Genetic Clinic of a tertiary-care teaching hospital. METHODS: Retrospective analysis of cases referred to the Genetic Clinic was performed. Case proformas of the patients presenting with phenotypic features of DS were analyzed. The following information was recorded from the proformas: age at presentation; sex; maternal age; craniofacial and other physical features; presence and type of congenital heart disease; gastrointestinal abnormalities, and results of cytogenetic evaluation. Clinical features in neonates with DS were separately analyzed. RESULTS: Analysis included cases of DS presenting over a period of 7.5 years; a total of 524 patients were studied (303 males and 221 females; M:F ratio 1.37:1). Average age at presentation was 19.4 months (range: 1 day-26 years). Average maternal age at birth of the affected child was 26.8 years (range: 16-45 years). Craniofacial features noted in >50% of the cases included mongoloid slant (83.9%), ear abnormalities (66.9%), epicanthic folds (56.9%), and flat facial profile (50.9%). A total of 76.3% cases had hypotonia. Characteristic limb and dermatoglyphic anomalies were seen in less than one half of cases. These included sandle sign (46.2%), unilateral or bilateral simian crease (33.2%), clinodactyly (36.1%), and brachydactyly (11.1%). Ophthalmologic abnormalities included hypertelorism (33.9%), nystagmus (3.2%), Brushfield spots (3.2%), squint (2.7%), and cataracts (1.9%). Congenital heart disease was clinically diagnosed in 96 cases (18.3%). The nature of the cardiac defect was ascertained by color Doppler examination and/or 2D-echocardiography in 58 cases. The most common cardiac anomalies were ventricular septal defect (25.8%), tetralogy of Fallot (15.5%), and atrial septal defect (12.1%). Gastrointestinal anomalies were noted in seven cases and included three cases with imperforate anus, two with Hirschsprung disease, and one each with duodenal atresia and Morgagni hernia. Results of cytogenetic abnormalities were available in 42.2%. Free trisomy (non-dysjunction) was present in 95%, 3.2% had translocation, and 1.8% were mosaics. In neonates, common features noted were mongoloid slant, ear abnormalities, flat facial profile, hypotonia, sandle sign, and clinodactyly+/-brachydactyly. CONCLUSIONS: All characteristic craniofacial and physical features of DS need not be present in every case. Major features noted in the present study were mongoloid slant, ear abnormalities, epicanthic folds, flat facies, and hypotonia. Congenital heart disease was present in 18.3% of cases, with ventricular septal defect being the most common type of defect. Non-dysjunction was the most common cause of the chromosomal anomaly.
Explore the source record for details and available documents.
BACKGROUND: Our aim was to study the clinical profile of pediatric patients admitted with HIV infection. METHODS: The prospective study was conducted from January 2000 to October 2001 at a tertiary care referral teaching hospital in Mumbai, India. Admitted in-patients (aged 1 month to 12 years) detected to be HIV-positive (on triple ELISA test) were enrolled in the study. HIV status of patients < 18 months of age was confirmed by DNA-PCR testing. Demographic data, clinical features, investigations and outcome were recorded in a pre-designed proforma. RESULTS: Fifty HIV-positive children (31 males and 19 females; M:F = 1.6:1) were enrolled. Thirty cases were completely immunized, 9 were partially immunized while 11 were not immunized. Forty-two were perinatally infected, while eight cases were infected via blood transfusion (patients with thalassemia major on chronic transfusion therapy). Clinical features at presentation in 42 symptomatic cases included protein-energy malnutrition (90%), fever > 1 month (50%), weight loss > 1 month (50%), persistent generalized lymphadenopathy (24%) and skin manifestations (79%). The gastrointestinal (62%) and respiratory (52%) were the most commonly involved organ systems. Opportunistic infections noted included tuberculosis (19 cases), candidiasis (6 cases), Pneumocystis carinii pneumonia (4 cases), herpes zoster (3 cases) and giardiasis (1 case). Six patients died (mortality, 14%). CONCLUSIONS: Perinatal transmission is the most common mode of acquiring HIV in the pediatric age group. Most patients have protein-energy malnutrition. Tuberculosis is common in HIV-infected Indian children. Patients with HIV-encephalopathy have a poor outcome.