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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The 5-year outcome of 101 extremely low birthweight (ELBW, < 1000 g) children discharged from the Neonatal Intensive Care Unit was reported. Over this period, there were four post-discharge deaths. The neurodevelopmental impairment rate was 18% overall: cerebral palsy 7%, blindness 3%, deafness 3% and developmental delay 10%. Seventy-one percent of children were readmitted to hospital. The mean number of admissions was 2.4 per child and the mean duration of total hospital stay was 11.3 days per child in the 5-year period. A trend was observed in a reduction in the readmission rate and hospital days in the 2-5-year period compared to the period between discharge and 2 years, though the differences were not statistically significant. The most common reason for readmission was for surgical procedures, primarily aural ventilation tube insertion and tonsillectomy and adenoidectomy. Significant health problems included recurrent wheezing episodes, stridor and croup in the period up to 2 years and otitis media and tonsillitis between 2 and 5 years. There was some catch-up growth, especially in height, between 2 and 5 years. Children with < 800 g birthweight had similar rates of neurodevelopmental impairment and hospital readmission to those of 800-999 g birthweight. However, they experienced more otitis media and pneumonia, had more ear, nose and throat operations, and at 5 years of age, more were below the 3rd centile for weight. This study showed that the health status of ELBW children had improved between 2 and 5 years, but they continued to experience recurrent health problems and hospital readmissions which would have resulted in added financial and emotional burdens to their families.
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PMID:Improving health status in extremely low birthweight children between two and five years. 128 68

We report a four-year-old boy with HIV encephalopathy after vertical HIV infection. On the first admission to our hospital he showed ataxia, loose of expressive language and interstitial pneumonia. After treatment of the pneumonia the patient was started on oral zidovudine with 6 x 6 mg/kg bw/day, because of persisting neurologic symptoms and deep white matter lesions in the MR tomogram of the brain. Two months later he showed an improvement of the gait and the reappearance of the expressive language. Seven months after the start with zidovudine the MR tomogram of the brain revealed the disappearance of white matter lesions with exception of little areas of demyelinisation. No side effects of treatment were observed. The only persisting pathological clinical signs were developmental delay of about a half year and moderately hyperactive tendon reflexes of the lower extremities. Our case suggests that even oral treatment with zidovudine can have a beneficial effect on the HIV encephalopathy in infants.
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PMID:[The effect of high-dose peroral zidovudine treatment in a 4-year-old child with HIV encephalopathy]. 156 Sep 90

Eleven children were identified as being seropositive for HIV-1 at the Ethio-Swedish Children's Hospital, Addis Abeba, Ethiopia between January 1988 and September 1989. The diagnosis was confirmed by both ELISA and Western blot methods performed at the National Research Institute of Health, Special Laboratory for AIDS. The mean age was 2 years and 5 months, with a range of 1 week to 10 years. There were 7 boys and 4 girls. The most common admitting diagnoses were pneumonia (5), gastroenteritis (5), marasmus (5), disseminated tuberculosis (4), and abandonment (3). One patient had extensive facial molluscum contagiosum. Symptoms at admission or during hospitalization included diarrhoea (9), failure to thrive (8), fever (7), and cough (7). Physical findings included hepatosplenomegaly (5), lymphadenopathy (3), and oral candidiasis (2). No patient with an opportunistic infection or radiographic evidence of lymphocytic interstitial pneumonitis (LIP) was identified. Five patients were classified as marasmic and 4 as underweight. Evidence suggestive of encephalopathy (developmental delay and/or microcephaly) was present in 5 patients. The VDRL was non-reactive in the 5 patients in whom it was tested. Nine children were presumed to have acquired the infection by perinatal transmission, though the passive transfer of maternal antibodies or postnatally acquired infection could not be excluded. One child was thought to have acquired the infection by blood transfusion. Three children died during their hospital stay. Paediatric HIV infection exists in Ethiopia; however, these children do not present with characteristic opportunistic infections but with signs and symptoms reflecting the most common paediatric problems seen in the country. Prevention of HIV infection in children entails the prevention of infection in women of childbearing age, counselling of infected women, and effective screening of blood products.
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PMID:Clinical and epidemiological features of HIV-1 seropositive hospitalized Ethiopian children. 206 May 7

We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked.
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PMID:Familial cutaneous amyloidosis with systemic manifestations in males. 679 69

The outcomes for five patients with retinoblastoma and constitutional chromosomal abnormalities involving the long arm of chromosome 13 are reported. All patients demonstrated developmental delay and mental retardation. Four of these patients are alive 23, 21, 15, and 1 year from diagnosis; one died of pneumonia with septicemia. Each of the four survivors has, with aging, shown hypotonia, mutism, contractures, and inability to function independently.
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PMID:Outcome for patients with constitutional 13q chromosomal abnormalities and retinoblastoma. 782 49

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.
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PMID:Neurological manifestations of HIV infection. 1265 56

Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anterior horn cell degeneration. The oldest reported child died at the age of 26 months. Two siblings were diagnosed with pontocerebellar hypoplasia type 1 after the death of the second sibling at 40 months of age from respiratory failure and the unexpected finding of anterior horn cell degeneration on her autopsy. The older sibling was a boy who was labeled as having cerebral palsy. He died at 14 months of age from pneumonia following a clinical course similar to his sister's, who was born 5 years after his death. Both siblings had significant global developmental delay with axial and peripheral hypotonia initially. Peripheral hypertonia with brisk reflexes developed later but were absent prior to death. Extensive investigations in the second sibling ruled out known metabolic (including congenital disorders of glycosylation) and mitochondrial diseases using skin fibroblast cultures and enzyme analysis. Genetic testing for Friedreich's ataxia; neuropathy, ataxia, and retinitis pigmentosa (NARP); spinal muscular atrophy; and spinocerebellar ataxia type 1, 2, 3, 6, 7, and 8 gene abnormalities was negative. The elecroretinogram showed a previously unreported finding of abnormal and progressive rod/cone response. Our cases provide clinical and previously unreported electroretinographic evidence for neurodegeneration in pontocerebellar hypoplasia type 1 and call for the expansion of the disease phenotype.
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PMID:Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. 1273 47

Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. His X-ray findings were consistent with mild form of dysostosis multiplex. Based on clinical and laboratory features, fucosidosis was suspected. Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in Turkey.
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PMID:Fucosidosis with hypothyroidism: a case report. 1521 49

Cornelia De Lange syndrome is a relatively uncommon, multiple congenital anomaly / mental retardation disorder of unknown etiology. Its incidence has been reported to vary from 1 : 30,000 to 1 : 50,000 of live births, without any known racial predilection. However, it has been considered to be due to a new dominant mutation. Main clinical features of this syndrome include growth retardation, developmental delay, hirsutism, structural limb abnormalities, mental retardation and facial growth discrepancies. Main causes of death in such patients include pneumonia along with cardiac, respiratory and GI abnormalities.
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PMID:Cornelia de-Lange syndrome. 1585 6

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.
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PMID:Gastrointestinal phenotype of ATR-X syndrome. 1668 41


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