Normal linear growth in hypophosphataemic bone disease.

A case of hypophosphataemic bone diseases is described. Despite prescribed phosphate (PO4) supplement and 1.25 dihydroxycholecalciferol therapy, serum PO4 levels have remained low with associated diminished theoretical renal threshold for phosphate (TmPO/GFR) over a seven and a half year follow up period. Linear growth, however, has been normal.

Kawasaki syndrome in 18 children in the west of Scotland.

Analysis of the case records of 18 children admitted to the Royal Hospital for Sick Children, Glasgow between June 1981 and May 1990 satisfied the diagnostic criteria of Kawasaki syndrome as published by Japan's Kawasaki disease research committee in September 1984. No aetiological agents were implicated. All children had cardiological work-ups including chest x-ray, ECG, 2-D echocardiography. Two children had gammaglobulin therapy and 16 had treatment with aspirin. All children except one recovered without sequelae. The child with right coronary artery aneurysm has since had successful coronary bypass surgery.

Visceral leishmaniasis in a Scottish child.

A Scottish girl acquired visceral leishmaniasis (kala-azar) while on holiday in Majorca. She presented with the infection, six months later, in Scotland. Because of inexperience with the disease and a degree of scepticism unnecessary investigations were carried out resulting in a delay in treatment.

Paracetamol overdose in children.

The severity of paracetamol poisoning varies but in general, children are considered less susceptible to its toxic effects compared to adults. In this report we describe the relatively benign ingestion of paracetamol in children and also highlight a case of intrauterine exposure to a potentially toxic dose of paracetamol.

Tuberculous meningitis in children: a review of 15 cases.

Tuberculosis meningitis (TBM) is the most serious form of infection with Mycobacterium tuberculosis. Between 1968 and 1986 15 children (five boys and 10 girls) were seen at the Royal Hospital for Sick Children, Glasgow, because of TBM. Fourteen children were Caucasian and one was Asian. The mean age at presentation was two years. None had been given BCG vaccination. In 12 children close contact with other cases of tuberculosis was reported. The signs and symptoms which helped in the diagnosis are discussed together with the initial CSF findings, results of mantoux testing and chest X-rays. Three children had unusual modes of presentation. All children were treated with chemotherapy though the drug combinations, route of administration and therapy varied from case to case. Steroids were used in nine children. Five children required neurosurgical intervention. Two children died and of the survivors six had serious sequelae. Five children made a complete recovery. The outcome of TBM depended on the duration of symptoms prior to the onset of therapy, on the neurological status reached at the time of diagnosis and the age of the child. The roles of chemotherapy, steroids and neurosurgery in the management of TBM are discussed. The need for routine BCG vaccination of all neonates is examined.

Abnormal sweat electrolytes in symptomatic human immunodeficiency virus infection in a child.

A 3 1/2 year old girl presented with failure to thrive and a five month history of diarrhoea and recurrent cough. The results of sweat sodium tests suggested a diagnosis of cystic fibrosis; but atypical organisms were found (Haemophilus influenzae, Candida albicans, but no Staphylococcus aureus), she failed to respond to treatment, and her sweat sodium concentrations fell in response to fludrocortisone. She also had hyperglobulinaemia, neutropenia, and reduced numbers of T4 lymphocytes, which prompted the performance of a test for antibody to human immunodeficiency virus (HIV). This proved positive, and she was treated with co-trimoxazole, zidovudine, and human immunoglobulin. Both parents and two siblings were also positive for HIV, though all had normal sweat sodium concentrations. Children with symptoms suggestive of cystic fibrosis but who also show atypical features, as in this case, should have their HIV state checked.

Toxic shock syndrome (TSS) in children.

Toxic shock syndrome is uncommon in the prepubertal age group. Two children presented with pyrexia, macular erythroderma, vomiting, hypotension and rapid deterioration of consciousness. One child had severe neurological involvement. The diagnosis of toxic shock syndrome was established in both cases by the exclusion of other causes and by culturing staphylococcus aureus. We postulate that the neurological manifestations were caused by a direct neurotoxic action of the staphylococcal-produced toxin. Both children made a complete recovery.

Hyperthyroxinemia due to the coexistence of two raised affinity thyroxine-binding proteins (albumin and prealbumin) in one family.

The T4-binding proteins of a euthyroid subject with persistent hyperthyroxinemia (T4, greater than 20 micrograms/dl) were present in normal concentrations. Abnormal transport of both T4 and rT3 was demonstrated by reverse flow paper electrophoresis; excess T4 was bound to albumin and prealbumin, while increased binding of rT3 was confined to prealbumin. The three T4-binding proteins in the serum of the subject were isolated by affinity chromatography and characterized. Equilibrium dialysis experiments demonstrated a 20-fold increase in affinity of the albumin for T4 (Ka, 5.1 X 10(6) M-1) and a 4-fold increase in affinity of prealbumin for T4 (Ka, 3.0 X 10(8) M-1); T4-binding globulin affinity was normal. Nine other members of the family were also studied. Two sisters of the propositus have both the abnormal albumin and the variant prealbumin, while a brother has normal T4-binding proteins. The mother has the abnormal albumin alone. The father, his sister, and one of his three brothers have the variant prealbumin only. Despite the presence of the variant prealbumin in some of the paternal relatives of the propositus, their total iodothyronine concentrations were within the normal ranges; the condition may, therefore, often go undetected. The characteristics of the albumin found in the affected members of this kindred are those we have defined for familial dysalbuminemic hyperthyroxinemia type I, which is inherited as an autosomal dominant trait. The pattern of inheritance of the variant prealbumin is also consistent with a dominant mode with strong penetrance. The presence of two separately inherited abnormal T4 transport proteins in the same family suggests that both conditions may be more common than has been thought.

Non-tuberculous mycobacterial lymphadenitis.

Most cases of mycobacterial lymphadenitis in children are caused by non-tuberculous mycobacteria, previously called the atypical mycobacteria. It is important to differentiate non-tuberculous mycobacterial lymphadenitis from tuberculous lymphadenitis as the treatment is different. We reviewed 19 children (12 girls and seven boys) with non-tuberculous mycobacterial lymphadenitis to define likely presenting features, helpful diagnostic measurements, and optimum management. Mean age at diagnosis was 5.2 years. Most had no systemic upset and clear chest x ray films. Cervical nodes were the commonest affected, and enlargement was usually unilateral. Mean duration of swelling was 6.6 weeks, and 63% of the nodes had an appearance suggestive of cold abscess. Routine haematology was unhelpful, and standard tuberculin testing performed in 47% yielded negative results in two thirds. Differential Mantoux testing with human purified protein derivative and an avium-intracellular antigen may be more useful. Antituberculous drugs were ineffective. The organism was usually highly resistant. Total excision is the treatment of choice. Antituberculous drugs are unnecessary.

Dermatomyositis-polymyositis in children.

Sixteen cases of dermatomyositis-polymyositis in children (dermatomyositis 15; polymyositis 1) have been reviewed. Proximal muscle weakness with a characteristic skin rash was vital for diagnosis in the majority of children. The positive laboratory tests such as creatine phosphokinase (CPK), electromyography (EMG) and muscle biopsy were helpful but results were normal in some cases even in the acute phase of the illness. All but one had been treated initially with high dose corticosteroids followed by a low dose maintenance for a prolonged period. Two in addition had had cytotoxic agents. Thirteen of the sixteen were currently in remission. In the other three cases, one with polymyositis only, the disease remained active and the two with dermatomyositis died. Only three of the patients were incapacitated by residual fixed contractures and extruding calcinosis. On the whole the prognosis of dermatomyositis is good.

Mucosal neuroma syndrome--a phenotype for malignancy.

The mucosal neuroma syndrome is characterised by a typical physical appearance, neuromata on tongue and buccal mucosa, and a high risk of developing medullary thyroid carcinoma and phaeochromocytoma. A case is described and the importance of early recognition for prevention of malignancy is stressed.

Ocular complications in juvenile chronic arthritis (JCA).

Fifty-six children with JCA have attended the Rheumatology Clinic at the Royal Hospital for Sick Children, Glasgow, over the past five years. Eleven have monoarthritis, 21 pauciarthritis and 24 polyarthritis. Seven children with pauciarthritis and one with monoarthritis developed ocular complications. Of these six were girls. In six children the arthritis preceded the uveitis. In one child arthritis and uveitis presented at the same time and in another the uveitis preceded the arthritis by one year. All were treated with steroids (7 topically, 1 systemically) and topical mydriatic agents. After an initial response the uveitis persisted as a low-grade inflammation gradually leading to secondary complications and increasing loss of vision. Only two patients enjoy normal vision at present. The importance of routine slit-lamp microscopy in all children with JCA is stressed, especially in those with pauciarthritis and antinuclear antibodies.

Pycnodysostosis in a Pakistani family: case presentation and review.

Pycnodysostosis is described for the first time in a Pakistani family. Two cases are presented and are contrasted with cases of osteopetrosis seen in this hospital over a twenty year period. The possibility of confusion with osteopetrosis is indicated and discussed.