1/43. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. We have studied 5 infants with persistent severe diarrhea from birth and marked abnormalities of absorption associated with failure to thrive leading to death in 4 infants. Three had siblings who died and a sibling of a 4th is ill at present, all with a similar illness; 2 were the products of consanguinous marriages. Exhaustive investigation failed to identify a recognized disease entity in any patient. steatorrhea, sugar malabsorption, dehydration, and acidosis were severe in all patients, whatever the diet fed. Total parenteral nutrition was used, but excessive stool water and electrolyte losses persisted even when nothing was fed by mouth. There was no evidence of a hematological or consistent immunological defect in any infant and no abnormalities of intestinal hormones were noted. In the duodenal mucosa of all infants we saw similar abnormalities characterized by villus atrophy, crypt hypoplasia without an increase in mitoses or inflammatory cell infiltrate in the lamina propria and in villus enterocytes absence of a brush border, increase in lysosome-like inclusions, and autophagocytosis. In 3 infants studied by marker perfusion of the proximal jejunum we found abnormal glucose absorption and a blunted response of Na absorption to actively transported nonelectrolytes; in 2 there was net secretion of Na and H2O in the basal state. Our patients evidently suffered from a congenital enteropathy which caused profound defects in their capacity to assimilate nutrients. The similar structural lesion seen in the small intestinal epithelium of all of our cases undoubtedly contributed to their compromised intestinal function, but the pathogenesis of this disorder, if indeed it is a single disease, remains obscure. ( info) |
2/43. failure to thrive and death in early infancy associated with raised urinary homovanillic and vanillylmandelic acids. A case of failure to thrive in an infant with persistently raised urinary levels of homovanillic and vanillylmandelic acids is descirbed. No neural crest tumour was discovered at surgical exploration or at necropsy. The relation of this biochemical abnormality and failure to thrive is unclear. ( info) |
3/43. Multiple nutritional deficiencies in infants from a strict vegetarian community. Severe nutritional deficiencies developed in four infants from a new vegan religious community. They had received breast milk until the age of 3 months; thereafter, breast milk was supplemented with or replaced by extremely low caloric-density preparations. All of the infants had profound protein-caloric malnutrition, severe rickets, osteoporosis, and vitamin B12 and other deficiencies. One infant died, while the three others had an uneventful recovery. After discharge of the infants from the hospital, the community responded well to a modification of the infants' diet, which did not violate their vegetarian philosophy. However, they refused to give their infants vitamin B12 on a regular basis. ( info) |
4/43. malnutrition in infants receiving cult diets: a form of child abuse. Severe nutritional disorders, including kwashiorkor, marasmus, and rickets, were seen in four children and were due to parental food faddism, which should perhaps be regarded as a form of child abuse. All disorders were corrected with more normal diets and vitamin supplements. In view of the potentially serious consequences of restricted diets being fed to children, families at risk should be identified and acceptable nutritional advice given. When children are found to be suffering from undernutrition due to parental food faddism a court order will normally be a necessary step in providing adequate treatment and supervision. ( info) |
5/43. Severe feeding difficulty in infants with increased pulmonary blood flow. Three infants with significant left-to-right intracardiac shunts and moderate cardiac disability failed to thrive primarily because of a complete distaste for food. They refused to feed, spat out food introduced into their mouths, and vomited food that reached their stomachs. These severe feeding difficulties were relieved by intracardiac repair, and we conclude that in some unusual instances such feeding disorders constitute the indication for operation. ( info) |
6/43. Neonatal gastric volvulus. Three infants with acute gastric volvulus occurring during the first week of life are presented, bringing the total number of cases reported in the neonatal period to nine. Abdominal radiographs and constrast studies of the upper gastrointestinal tract were nearly identical in all three infants and showed a characteristic pattern that allowed unequivocal preoperative diagnosis. It is essential that the radiologist recognize the radiographic features of acute gastric volvulus, since prompt operative intervention is mandatory to prevent late complications, which include gastric perforation and death. ( info) |
7/43. Severe nutritional deficiencies in toddlers resulting from health food milk alternatives. It is widely appreciated that health food beverages are not appropriate for infants. Because of continued growth, children beyond infancy remain susceptible to nutritional disorders. We report on 2 cases of severe nutritional deficiency caused by consumption of health food beverages. In both cases, the parents were well-educated, appeared conscientious, and their children received regular medical care. Diagnoses were delayed by a low index of suspicion. In addition, nutritional deficiencies are uncommon in the united states and as a result, US physicians may be unfamiliar with their clinical features. Case 1, a 22-month-old male child, was admitted with severe kwashiorkor. He was breastfed until 13 months of age. Because of a history of chronic eczema and perceived milk intolerance, he was started on a rice beverage after weaning. On average, he consumed 1.5 L of this drink daily. Intake of solid foods was very poor. As this rice beverage, which was fallaciously referred to as rice milk, is extremely low in protein content, the resulting daily protein intake of 0.3 g/kg/day was only 25% of the recommended dietary allowance. In contrast, caloric intake was 72% of the recommended energy intake, so the dietary protein to energy ratio was very low. A photograph of the patient after admission illustrates the typical features of kwashiorkor: generalized edema, hyperpigmented and hypopigmented skin lesions, abdominal distention, irritability, and thin, sparse hair. Because of fluid retention, the weight was on the 10th percentile and he had a rotund sugar baby appearance. Laboratory evaluation was remarkable for a serum albumin of 1.0 g/dL (10 g/L), urea nitrogen <0.5 mg/dL (<0.2 mmol/L), and a normocytic anemia with marked anisocytosis. Evaluation for other causes of hypoalbuminemia was negative. Therapy for kwashiorkor was instituted, including gradual refeeding, initially via a nasogastric tube because of severe anorexia. Supplements of potassium, phosphorus, multivitamins, zinc, and folic acid were provided. The patient responded dramatically to refeeding with a rising serum albumin and total resolution of the edema within 3 weeks. At follow-up 1 year later he continued to do well on a regular diet supplemented with a milk-based pediatric nutritional supplement. The mortality of kwashiorkor remains high, because of complications such as infection (kwashiorkor impairs cellular immune defenses) and electrolyte imbalances with ongoing diarrhea. Children in industrialized countries have developed kwashiorkor resulting from the use of a nondairy creamer as a milk alternative, but we were unable to find previous reports of kwashiorkor caused by a health food milk alternative. We suspect that cases have been overlooked. Case 2, a 17-month-old black male, was diagnosed with rickets. He was full-term at birth and was breastfed until 10 months of age, when he was weaned to a soy health food beverage, which was not fortified with vitamin d or calcium. Intake of solid foods was good, but included no animal products. Total daily caloric intake was 114% of the recommended dietary allowance. Dietary vitamin d intake was essentially absent because of the lack of vitamin d-fortified milk. The patient lived in a sunny, warm climate, but because of parental career demands, he had limited sun exposure. His dark complexion further reduced ultraviolet light-induced endogenous skin synthesis of vitamin d. The patient grew and developed normally until after his 9-month check-up, when he had an almost complete growth arrest of both height and weight. The parents reported regression in gross motor milestones. On admission the patient was unable to crawl or roll over. He could maintain a sitting position precariously when so placed. Conversely, his language, fine motor-adaptive, and personal-social skills were well-preserved. Generalized hypotonia, weakness, and decreased muscle bulk were present. Clinical features of rickets present on examination included: frontal bossing, an obvious rachitic rosary (photographed), genu varus, flaring of the wrists, and lumbar kyphoscoliosis. The serum alkaline phosphatase was markedly elevated (1879 U/L), phosphorus was low (1.7 mg/dL), and calcium was low normal (8.9 mg/dL). The 25-hydroxy-vitamin d level was low (7.7 pg/mL) and the parathyroid hormone level was markedly elevated (114 pg/mL). The published radiographs are diagnostic of advanced rickets, showing diffuse osteopenia, frayed metaphyses, widened epiphyseal plates, and a pathologic fracture of the ulna. The patient was treated with ergocalciferol and calcium supplements. The published growth chart demonstrates the dramatic response to therapy. Gross motor milestones were fully regained within 6 months. The prominent neuromuscular manifestations shown by this patient serve as a reminder that rickets should be considered in the differential diagnosis of motor delay. (ABSTRACT TRUNCATED) ( info) |
8/43. Peripheral gangrene in hypernatraemic dehydration of infancy. gangrene of the extremities complicating diarrhoea and severe hypernatraemic dehydration occurred in 6 infants. This is a rare complication of gastroenteritis, and its association with hypernatraemia does not seem to have previously been emphasized. The increased blood viscosity resulting from serum hyperosmolarity may have been responsible for the gangrene, and studies in our patients suggested that disseminated intravascular coagulation was present. In addition to fluid and electrolyte replacement, the infants were treated with heparin with some recovery of the affected extremities. ( info) |
9/43. Hypokalaemic paralysis in malnourished children. Six malnourished children presenting with acute flaccid paralysis caused by hypokalaemia are described. Their ages ranged from 6 to 36 months. The extent of paralysis varied from neck flop to quadriparesis. Two cases had respiratory paralysis requiring ventilatory support for 48-72 hours. All were successfully treated with potassium supplementation. Hypokalaemia should be considered in the differential diagnosis of acute flaccid paralysis in malnourished children. ( info) |
10/43. Risks of alternative nutrition in infancy: a case report of severe iodine and carnitine deficiency. A 7.5-month-old infant with failure to thrive, developmental delay, muscular hypotonia, a visible goitre and severe osteopenia is described. Laboratory examination revealed a markedly increased serum TSH with low free T4, severe iodine and carnitine deficiency. The infant was breastfed until the age of 2.5 months and was then given a mixture of almond extract in water. The mother is a strict vegan and the father a lactovegetarian. The nutritional intake of the child was severely depleted in calories (-46%), calcium (-73%) and iodine (-88%). The restrictive alternative nutrition was responsible for the various deficiency disorders. ( info) |