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Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X). Feeding difficulties (20X), vomiting (18X), and failure to thrive (16X) were leading symptoms. The most frequent clinical findings were hepatomegaly (18X), pallor (14X), haemorrhages (13X). Ascites, oliguria, tachypnoea, fever, splenomegaly and rickets were less frequent. Laboratory findings were indicative of disturbed hepatic and renal tubular function and also of disturbed intermediary metabolism (hypokaliaemia, hypophosphataemia). However, hypoglycaemia was found in only 4 out of 15 patients tested. Differential diagnosis after hospital admission centered on metabolic disorders such as glycogenoses, galactosaemia, tyrosinosis, or Wilson's disease. Hepatitis, toxic hepatosis, liver tumour, intrauterine infection and sepsis were also considered. Eleven children had first ingested fructose within the first 6 weeks of life. The diagnosis was usually established only many weeks or months after first fructose intake and appearance of symptoms. This documents how difficult the diagnosis of this disease can be both in practice and in hospital. The course was severe in 11 children and lethal in 4. In only 5 patients was the course mild. The 16 survivors are doing well under fructose-exclusion diet. Irreversible visual impairment after intraocular haemorrhage occurred once. In each case HFI could have been suspected immediately, had a detailed nutritional history been taken. Practising paediatricians should know the composition of commonly used infant formulae. They should never prescribe sugared condensed milk for intractable vomiting prior to excluding HFI. Solution for intravenous infusion containing fructose and sorbitol are life-threatening for undiagnosed HFI patients.
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PMID:Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases. 73

A prospective case series study was conducted Jan 1991-Oct 1991 on 108 neonates admitted to NICU, Lusaka. 90 patients satisfied inclusion criteria, 45 cases and 45 controls. Symptomatic seropositive babies born to seropositive mothers presented with failure to thrive, fever, persistent or recurrent thrush, severe Sepsis and large liver. Tendency to prematurity among cases was high. Diarrhoea, Sepsis and Haemolytic Anaemia appear to be terminal signs. Neonates suffer the most aggressive form of HIV/AIDS, with symptomatic cases dying 3-4/52 of onset of symptoms. Over one quarter of the mothers were symptomatic. Congenital malformations and Lymphadenopathy were not significantly associated. Microcephaly occurred in association with failure to thrive and was not an isolated finding.
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PMID:Clinical presentation of HIV/AIDS in the high risk neonate in Zambia. 139 42

A previously undescribed fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys occurred in sibs. They both presented during early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end-stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal.
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PMID:New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems. 144 88

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should therefore be given for early antibiotic therapy in infants with suspected galactosemia in spite of the absence of clinical signs or symptoms of sepsis.
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PMID:Association of Escherichia coli sepsis and galactosemia in neonates. 156 28

This review describes the transmission, clinical picture and immunological abnormalities of HIV infection in children in general, and the special problems of AIDS in African children. The review begins with a thorough introduction to the epidemiology of AIDS. Transmission to children generally involves vertical transmission by placental transfer or transmission of HIV via transfusion of blood and blood products, or by contaminated needles. Casual transfer is unknown, and only a few cases of transmission via breast milk are known. The clinical picture of HIV infection in infants and children differs from that in adults in 3 important aspects: earlier onset, different clinical presentation and existence of AIDS embryopathy. The average onset was 5 months of age. The most common symptoms in young children are chronic interstitial pneumonitis without demonstrable etiology, hepatomegaly, failure to thrive, adenopathy, diarrhea, oral or perineal thrush, eczema and thrombocytopenia. The common opportunistic infections are pneumocystis carinii pneumonia, cytomegalovirus, Epstein-Barr virus, Cryptosporidium diarrhea, pyogenic infections of the middle ear and gram-negative septicemia. Several infections seen in adult AIDS cases are rare in children: mycobacterium avium-intracellulare, toxoplasma gondii, hepatitis B, as well as Kaposi's sarcoma, malignant lymphoma and cardiac abnormalities. The AIDS embryopathy or HIV dysmorphic syndrome is characterized by immunological abnormalities, growth failure, and craniofacial dysmorphism, particularly microcephaly, prominent box-like forehead, hypertelorism, flattened nasal bridge, obliquity of the eyes, blue sclerae and patulous lips. AIDS in African children is extremely difficult to diagnose because of similarities between the presenting symptoms and those commonly seen in sick children there, many of whom are also immune compromised. Where serotesting is available, the picture is complicated by cross reaction between the test agents and some factor found in sera from malaria patients. Seropositivity in some areas is high, increased by the prevalence of transfusion and injection treatments. Diagnosis is made more difficult by lack of laboratory facilities and difficulties in follow-up for pediatric patients. The CDC definitions of AIDS and ARC, and the WHO/CDC definitions of AIDS are appended.
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PMID:Human immunodeficiency virus infection in childhood. 245 15

Patients requiring feeding gastrostomies are often poor risks for either laparotomy or general anesthesia. Percutaneous endoscopic gastrostomy can be performed at the bedside by a surgeon-endoscopist and with minimal sedation. The authors performed this procedure on 45 patients ranging in age from 17 to 88 years. The procedure was indicated for neurologic disorders in 34 patients, head and neck tumours in 2, failure to thrive in 4, esophageal obstruction from lung cancer in 1 and tracheostomy for multisystem failure or trauma and sepsis in 4. In three cases the procedure could not be performed because the stomach could not be intubated. In 29 cases local anesthesia and sedation (diazepam and meperidine) were used, but in 16 cases general anesthesia with hyperventilation was preferred. The mean operative time was 32 minutes, decreasing with experience so that the current mean operative time for the last nine cases was 23 minutes. Feeding was begun on day 1 after operation in most patients and on day 2 in others. Complications included tube displacement in three patients, superficial infection at the site of the tube insertion in three (not requiring drainage or tube removal) and asymptomatic pneumoperitoneum in one patient. These complications all occurred early in the series. No patient suffered paralytic ileus, vomiting, aspiration or significant leaking around the tube. In the authors' opinion percutaneous endoscopic gastrostomy is the preferred method for placement of a feeding gastrostomy. It can be performed rapidly with minimal stress in high-risk patients.
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PMID:Percutaneous endoscopic gastrostomy: indications and results. 309 37

A case of panhypogammaglobulinemia in a 15-month old boy is presented. The child was followed at a local university teaching hospital for pneumonia, failure to thrive, and possible child abuse/neglect. Following minor trauma to the face, massive sepsis developed in the child. The mother was afraid to seek medical care because she was fearful of legal action against her. Upon the child's demise at home, police and medical examiner involvement ensued. The correct diagnosis was established at autopsy.
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PMID:A case of panhypogammaglobulinemia masquerading as child abuse. 232 28

Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented.
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PMID:Congenital nephrotic syndrome. Gallium-67 imaging. 323 73

An example of health education attempted by St. Mary's Hospital Lacor, Gulu, Uganda produced ambivalent results. The Acholi people in the area believe that "ebino" or false tooth, which is what they call the erupting canine teeth in 4-7 month-old infants, causes diarrhea, fever, convulsions and failure to thrive. They therefore remove the tooth buds, using unhygienic conditions, causing such complications as infection, hemorrhage, anemia, osteomyelitis, septicemia, meningitis, tetanus and sometimes death. In 1982 the hospital workers changed their attitude from one of contempt and hostility to acceptance, teaching people about the complications of removing false teeth. Attempts at education have resulted in an increase in late, more seriously ill cases in 1980-82; a great increase in cases brought to the hospital in 1983; followed by admissions sooner after the procedure with only 7% deaths in 1983-84. Recently very young babies have been brought in, having been operated on before any gingival swelling would be apparent. Surveys of hospital personnel showed that a majority of them favor the operation, but prefer it to be done in the hospital with aseptic techniques. The current approach is to express confidence in mothers' natural intelligence and ability to understand the subject presented to them clearly.
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PMID:Influence of health education on local beliefs. Incomplete success, or partial failure. 362 99

We report here nine children with AIDS. The risk factors of these patients were hemophilia in one, blood transfusions in four, maternal intravenous drug use in three and paternal AIDS in one. One baby was also of Haitian parentage. The major clinical symptoms included failure to thrive, hepatomegaly, lymphadenopathy, interstitial pneumonia, recurrent bacterial and viral infections and persistent oral thrush. Three infants had chronic recurrent parotitis. Five infants developed opportunistic infections primarily Pneumocystis carinii pneumonia and all five died of bacterial sepsis. None of the infants were lymphopenic but all had reversed T4/T8 ratios and poor in vitro lymphocyte responses to pokeweed mitogens. Although many of the clinical and laboratory features of pediatric and adult AIDS are similar, there are some unique features for pediatric AIDS such as the absence of lymphopenia and the high prevalence of recurrent bacterial infections and sepsis.
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PMID:Acquired immunodeficiency syndrome (AIDS) in infants and children: report of nine cases. 383 Feb 64


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