Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium

A 6-year-old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X-linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia.     

Mycoplasma pneumoniae infection presenting as neutropenia, thrombocytopenia, and acute hepatitis in a child.

Extrapulmonary manifestations of Mycoplasma pneumoniae pneumonia are uncommon and include hematologic, gastrointestinal, musculoskeletal, dermatologic, and neurologic complications. We report a case of serologically-confirmed M. pneumoniae infection complicated by severe neutropenia, thrombocytopenia, and hepatitis. The presence of antiplatelet and antineutrophil antibodies suggested that these autoantibodies caused the cytopenias. The disease had an acute course and the patient recovered after steroid treatment. This case indicates that neutropenia, thrombocytopenia and hepatitis are possible clinical manifestations of M. pneumoniae infection.     

Coping with food-limited conditions: feeding behavior, temperature preference, and nocturnal hypothermia in pigeons.

The adaptive response to increasing food scarcity were investigated in a closed economy behavioral procedure. Food-limited conditions were simulated by an increasing fixed ratio (FR) schedule, i.e., an increasing number of keypecks was required to give the pigeons access to a food dispenser. The birds could influence the ambient temperature (Ta) by breaking light beams. The body weight (b.wt.), the deep body temperature (Tb), the selected Ta, the pecks to the food key, and the number of food accesses were continuously recorded. As the FR increased, the pigeons first showed an improvement of the feeding behavior. When this behavioral adaptation failed to maintain a sufficient food intake, the b.wt. of the pigeons gradually decreased and nocturnal hypothermia occurred. Interrelated to nocturnal hypothermia, the birds changed their Ta preference. Only when their b.wt. had reached approximately 70% of its initial value, the birds increased their feeding activity. At all ranges of food scarcity, the pigeons reached a steady state. The work provides evidence about the way adaptive mechanisms interact within the response complex to food-limited conditions.     

46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.

An infant with neutropenia, properdin deficiency, and a 46,XY/46,XY,21q- mosaicism is described. It is not known whether these two findings are related to the missing 21q material. The propositus is normal in appearance, and has none of the phenotypic features associated with the G-group deletion syndromes.     

Early infant feeding and weight gain

Three hundred and one babies were surveyed for one year in an infant welfare clinic in North London. There was no significant difference at six months and one year of age in the mean weights of babies breast-fed for more than one month and those not breast-fed at all.

At six months, the mean weight of those babies given solid food before three months of age was significantly higher than the mean weight of those babies given solids only after three months of age. This difference had disappeared by one year of age.

     

Eosinophilic gastrointestinal disorder in an infant with feeding dysfunction

Feeding dysfunction (FD) has recently been considered to comprise a prevalent set of symptoms in eosinophilic gastrointestinal disorders (EGIDs) in young children. We report the case of an 8-month-old girl with an EGID who visited our hospital due to vomiting, poor weight gain and feeding difficulties; her condition was discovered during the examination of the symptoms including FD. Tracheal aspiration and reduced esophageal clearance showed up in a barium swallow test and upper gastrointestinal contrast radiography, respectively. Delayed clearance from the stomach was also detected on gastrointestinal scintigraphy. Gastrointestinal endoscopy and biopsies revealed esophagitis with some eosinophils and duodenitis with eosinophilic inflammation. She was not a likely candidate for eosinophilic esophagitis. On administration of an elemental diet, the patient gained weight. Esophageal and stomach clearance subsequently improved, although the vomiting and FD persisted to some extent. We conclude that it is important to consider other EGIDs as well as eosinophilic esophagitis in the differential diagnosis of FD.     

Maternal asthma,infant feeding,and the risk of asthma in childhood

Controversy surrounds the issue of whether children with asthmatic mothers should be breast-fed. The aim of this study was to investigate whether maternal asthma status alters the association between asthma and breast-feeding. In a cohort study of 2602 West Australian children enrolled before birth and followed prospectively, we collected data on method of infant feeding, maternal asthma (as reported by parental questionnaire), atopy (as measured by skin prick test), and current asthma (defined as a physician's diagnosis of asthma and wheeze in the last year) at 6 years of age. The risk of childhood asthma increased if exclusive breast-feeding was stopped (other milk was introduced) before 4 months (odds ratio, 1.28; 95% CI, 1.01-1.62; P =.038), and this risk was not altered by atopy or maternal asthma status. After adjusting for covariates, exclusive breast-feeding for less than 4 months was a significant risk factor for current asthma (odds ratio, 1.35; 95% CI, 1.00-1.82; P =.049). There was no formal statistical interaction between breast-feeding and maternal asthma status (P =.970). In this study maternal asthma status did not modify the association between asthma and breast-feeding duration. We recommend that infants with or without a maternal history of asthma be exclusively breast-fed for 4 months and beyond.     

Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s

A 2-day-old infant was evaluated and suspected of having 22q11.2 deletion based on microcephaly, short and narrow palpebral fissures, a prominent nose with hypoplastic alae nasi, thin fingers, and a right aortic arch. He also had an imperforate anus, which is not in the del 22q11.2 syndrome. Karyotype analysis identified a ring 22, while fluorescence in situ hybridization (FISH) for the DiGeorge syndrome critical region identified a 22q deletion on the other homologue. The karyotype designation was 46,XY,r(22)(p13q13.3).ish del(22)(q11.2q11.2) (D22S75-). Both parents function in the mildly mentally retarded range. The father's karyotype was normal whereas the mother had the ring 22 that was inherited by her son. This is the first case reported for abnormalities on both 22 homologues.     

Infant feeding and infant health in American Samoa

This study examines the association between infant feeding patterns and health for 6,267 Samoan children born between 1976 and 1982, and represented in the Well Baby Clinic records at the LBJ Tropical Medical Center, American Samoa. The visits to the clinic were aggregated by trimester of age during the first year of life. For each trimester, the principal source of milk was determined, and the children were categorized as breast-fed if they were taking only breast milk, bottle-fed if they were getting no breast milk, or mixed-fed if they were getting both breast milk and milk from other sources. Symptoms and complaints noted in the records were assigned to ICD categories. Associations between source of milk and disease category were analyzed. The Samoan infants were found to be quite healthy for a tropical developing population, as evidenced by both growth in weight and length, as well as by frequency of illnesses. The most common specific disease category, aside from miscellaneous symptoms, was ICD 8, respiratory problems. Gastrointestinal diseases were rare for a developing area. There was an association between source of milk and illness (yes/no) for both the second and third trimesters. In both cases breast-fed infants were healthier than the mixed-fed infants, and during the second trimester the contrast was significant with bottle-fed infants also. When examined by ICD category, breast-fed infants tended to be less likely to have problems in any of the categories, but the only significant differences were between mixed-fed (lower prevalence) and bottle-fed infants during the first trimester for ICD 3, primarily nutritional problems; and for breast-fed (lower prevalence) and mixed-fed infants for ICD 9, digestive problems. These findings highlight the need for additional household work to delineate associations with the growth and health of Samoan infants.     

A patient with onychotrichodysplasia, neutropenia and normal intelligence

A 9-year-old boy with onychotrichodysplasia and chronic neutropenia is presented. In contrast to cases described earlier, our patient has normal intelligence. The typical features of trichorrhexis nodosa are shown by electronmicroscopic photography. The chronic neutropenia is discussed and supposed to be part of the so-called lazy leucocyte syndrome.     

Ultrastructure of hepatic mitochondria in a child with hyperornithinemia,hyperammonemia, and homocitrullinuria

Ultrastructural studies of hepatic tissue obtained at biopsy from a nine year old severely retarded boy with hyperornithinemia, hyperammonemia, and homocitrullinuria showed mitochondria of bizarre shapes and unusual internal features. Among the latter were tubules extending throughout the length of the large mitochondria that on cross section had a rosette-like arrangement; the presence of a periodic, approximately 300thick, sievelike membrane interposed between the tubules and the inner mitochondrial membrane; and “bulges” of mitochondrial matrix occasionally formed between these two membranes.Since to be metabolized ornithine must enter the mitochondria, the hyperornithinemia is regarded as a reflection of its inability to reach the mitochondrial interior. It is speculated that among other possible causes, the unusual sievelike membrane may be the barrier to ornithine's access to the mitochondrion.     

Psychosomatic interaction between mother and infant during breast feeding

Within the context of a major research project on the impact of mother's depression on breast feeding, this study presents a qualitative analysis of mother-infant interaction during a single breast feeding situation. From the holistic perspective there emerged five central themes of interaction, which all displayed a different purpose. Mothers had quite often difficulties in psychosomatic interaction during a phase of hungry eating. More detailed analysis revealed some interesting differences between the depressed and nondepressed mothers.