Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.

We studied two unrelated patients with autosomal recessive multisystem triglyceride storage disease. Cultured fibroblasts accumulated 10 times more triglyceride than controls under glycerol or palmitate feeding. Mutant fibroblasts could not degrade accumulated triglycerides of endogenous origin, but normally degraded endogenously synthesized phospholipids. When the cells were fed with exogenous olein, triglyceride catabolism was in the normal range. Oxidation of long-chain, medium-chain, and short-chain fatty acids was normal, and the activities of acidic, neutral, and alkaline lipase in cell extracts were normal. The disease seems to be due to a specific impairment in the degradation of triglycerides synthesized endogenously.

New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers.

We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, "coarse" face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.

Report on two patients with Costello syndrome and sialuria.

We report on 2 unrelated patients with Costello syndrome. The first is a 5-year-old girl with "coarse" face, nasal papillomata, redundant skin of feet and hands, hyperextensible hand and finger joints, curly hair, feeding problems due to oral motor apraxia, growth and psychomotor retardation. The second is a 3-year-old boy with "coarse" face, loose skin on hands and feet, curly hair, oral motor apraxia, severe growth and psychomotor retardation. In both patients urine sialic acid levels were found to be repeatedly high. The meaning of this biochemical abnormality is discussed.

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome?

We report on a 17 6/12-year-old boy with nephronophthisis, retinitis pigmentosa, left upper eyelid ptosis, enopthalmos, transmissive deafness, GH and TSH deficiency, and mild skeletal dysplasia. A similar case was reported by Bianchi et al. [1988: Helv Paediatr Acta 43:449-455] in another Italian patient. Here we confirm the previous observations and argue that both patients might be affected by a new syndrome.

Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.

Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers.

Two brothers with a presumably hereditary motor and sensory polyneuropathy (HMSN), sensory-neural hearing loss and mental retardation had clinical features and neuropathological changes in the sural nerve which may set the disorder apart from previously described types of HMSN. Consecutive sural nerve biopsies from one case showed absence of large myelinated fibers and a normal complement of small fibers. We infer from our findings that a developmental abnormality with faulty growth and subsequent axonal atrophy may be responsible.

Erythema multiforme-like manifestations and arthritis in a 3-year-old child with leukocytoclastic vasculitis.

A 3-year-old boy with erythema multiforme-like manifestations and severe articular involvement is reported. Because of the unusual onset of the cutaneous lesion a skin biopsy was performed, revealing the typical features of a leukocytoclastic vasculitis. A direct immunofluorescent study revealed C3 and IgM deposition within the wall and around the small vessels. The clinical and immunopathological findings in this patient were similar to those reported for the acute hemorrhagic edema of infancy (AHE) described in children younger than 2 years of age. The present case supports the hypothesis that AHE is a distinctive leukocytoclastic vasculitis of childhood, irrespective of the age at onset.

Cyclosporin A in the treatment of juvenile chronic arthritis and childhood polymyositis-dermatomyositis. Results of a preliminary study.

In this study we have investigated the efficacy and safety of cyclosporin A (CyA) in a group of pediatric patients with juvenile chronic arthritis (JCA, 9 cases) and polymyositis-dermatomyositis (PM-DM, 3 cases). Of the 9 JCA patients, 7 had the systemic and 2 the polyarticular form of the disease. All of the patients received CyA after the failure of corticosteroids and/or cytotoxic drugs. CyA was administered for 9 to 48 months at a mean dose of 5 mg/kg/day. Ten patients received corticosteroids with CyA. The results of CyA treatment were satisfactory overall, both in the PM-DM patients and in the JCA patients, as assessed by clinical and laboratory evaluation. CyA-related side effects included alopecia, hypertension, hypertrichosis, tremors, and hirsutism. One JCA patient developed polyserositis with hypoproteinemia of unknown origin while receiving CyA. CyA blood levels did not correlate with clinical efficacy and/or side effects. This study suggests that CyA represents a promising agent for the treatment of JCA and childhood PM-DM.

Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy.

We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families.

[Gaucher's disease. Longitudinal-study in 17 patients in a 10-year period (1970-1980) (author's transl)]. / La malattia di Gaucher. Considerazioni su 17 casi studiati nel decennio 1970-1980.

We report follow-up studies of 17 patients with Gaucher disease observed over nearly 10 years. According to the classical subdivision in three clinical forms our cases are: 10 patients with the type 1, chronic, non neuronopathic form; 3 with type 2, acute, neuronopathic form; 4 with type three, subacute, neuronopathic form. Varying degrees of clinical severity and involvement of visceral organs and bones were observed. Possible molecular bases for the heterogeneity of pathology observed are discussed. Two prenatal diagnoses monitored in the same at risk family are reported. Observations of Brady suggesting that enzyme replacement may be useful for treatment of type 1 patients are discussed.

[Clinical heterogeneity in fructose intolerance]. / Eterogeneità clinica nell'intolleranza al fruttosio.

We observed eight infants with hereditary fructose intolerance which had been diagnosed by the fructose tolerance test and an aldolase assay on biopsied liver. None of these had been diagnosed before their admission to our department. The most frequent symptoms were vomiting and failure to thrive. All the patients had hepatomegaly. Laboratory findings were indicative of disturbed hepatic function. Hypoglycemia was found in only 3 out of 8 patients. The course was lethal in 2 patients; the 6 survivors are doing well following a fructose-free diet. The importance of practising paediatricians having the detailed nutritional history of the patient and precise knowledge of infant food formulae is stressed. The danger of using fructose continuing solutions for infusion therapy is pointed out. We also report a case of F-1,6-diphosphatase deficiency.

[Use of computer programs in the education and self-management of patients with insulin-dependent diabetes mellitus]. / Impiego dei programmi informatici nell'educazione e nell'autogestione dei pazienti affetti da diabete mellito insulino-dipendente (IDDM).

A computerized program for children and adolescents with insulin dependent diabetes mellitus (IDDM) and their parents has been developed. Our program consists of computed assisted education, of aid to routine insulin dosage self adjustment and of records of home and hospital controls. Technically it has been implemented in DBIII plus: it runs on IBM PC computers (and compatible computers) and MS DOS (version 3.0 and later). Computed assisted education consists of 80 multiples choice questions divided in 2 parts: the first concerns basic informations about diabetes while the second one behavioral attitudes of patient in particular situations. Explanations are displayed after every question, apart from correct of incorrect choice. Help for self-adjustment of routine insulin dosage is offered in the third part. Finally daily home urine and/or blood controls and results of hospital admissions are stored in a database.

[Mannosidosis. Study of two families and prenatal diagnosis]. / La mannosidosi. Studio di due famiglie e diagnosi prenatale.

Mannosidosis is a human lysosomal storage disease caused by and acid alpha-mannosidase deficiency. We have studied two affected Italian families and in this paper discuss the problems concerning the clinical and radiological findings, and laboratory assay as an access to diagnosis. Reference is made to our personal experience, as concerns the difficulties of carrier detection and of prenatal diagnosis.

Multiple lymphonodular cryptococcosis, cured by 5-fluorocytosine.

A 5-year-old boy was admitted with an acute febrile illness and painful and enlarged cervical lymph nodes. A chest X-ray showed right tracheobronchial lymph nodes. A lymph node biopsy demonstrated a tuberculoid appearance, with epitheloid cells, giant cells, and also necrotic zones. Cryptococcus neoformans was isolated both in culture and after animal inoculation. While amphotericin B was not tolerated by the patient, the oral administration of 5-fluorocytosine resulted in a rapid recovery.

Fucosidosis: a neuropathological study.

The involvement of the central nervous system in fucosidosis is related to severe lesions of both nerve and glial cells. The morphology of cells degeneration is characterized by both vacuoli containing water-soluble fuco-derivatives (fuco-oligosaccharides) and/or granular substances probably constituted by fuco-sphingolipds. The cerebral cortex is the most severely affected. The involvement of the white matter is related to the glial cells degeneration. The relationship between the morphology of nerve and glial cells lesions, and the accumulation of oligosaccharides and sphingolipids following the absence of alpha-L-fucosidase, is briefly discussed.