INTRODUCTION Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorders characterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms. METHODS We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by western blotting and isoelectric focusing of serum transferrin. RESULTS Based on the clinical features, CDG Ia could be split into two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa (n=11), and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement (n=9). Interestingly, dysmorphic features, inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not consistently observed in CDG Ia. By contrast, the two CDG Ib patients had severe liver disease, enteropathy, and hyperinsulinaemic hypoglycaemia but no neurological involvement. Finally, the CDG Ic patient and one of the CDG Ix patients had psychomotor retardation and seizures. The other CDG Ix patients had severe proximal tubulopathy, bilateral cataract, and white matter abnormalities (one patient), or multiorgan failure and multiple birth defects (one patient). CONCLUSIONS Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.

We describe a patient: with an unusual neonatal disseminated form of neurofibromatosis (NF1). Prenatal ultrasound studies, at 35 weeks of gestation, revealed ambiguous external genitalia, an increased biparietal diameter and a decreased growth of long bones, Postnatal examination displayed generalized neurofibromatosis, with perineal, thoracic and spinal cord invasion by tumors. Spinal cord compression was responsible for paraparesis, The child died of a pulmonary infection at five years of age, No previous report of such prenatal abnormalities has been described, Genetic counselling is difficult because of the variable expression of the illness.

Journal of Inherited Metabolic DiseaseVolume 19, Issue 2 p. 220-222 Short Communication Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency G. Kuchler, G. Kuchler Department of General Pediatrics, University of Heidelberg, GermanySearch for more papers by this authorD. Rabier, D. Rabier Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorF. Poggi-Travert, F. Poggi-Travert Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorD. Meyer-Gast, D. Meyer-Gast Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorJ. Bardet, J. Bardet Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorV. Drouin, V. Drouin Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorM. Cadoudal, M. Cadoudal Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorJ. -M. Saudubray, J. -M. Saudubray Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this author G. Kuchler, G. Kuchler Department of General Pediatrics, University of Heidelberg, GermanySearch for more papers by this authorD. Rabier, D. Rabier Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorF. Poggi-Travert, F. Poggi-Travert Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorD. Meyer-Gast, D. Meyer-Gast Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorJ. Bardet, J. Bardet Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorV. Drouin, V. Drouin Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorM. Cadoudal, M. Cadoudal Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this authorJ. -M. Saudubray, J. -M. Saudubray Hôpital Necker des Enfants Malades, Paris, FranceSearch for more papers by this author First published: 01 March 1996 https://doi.org/10.1007/BF01799434Citations: 21 Kinderklinik der Ruprecht-Karls-Universität, Im Neuenheimer Feld 150, Heidelberg, 69120, Germany AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article.Citing Literature Volume19, Issue2March 1996Pages 220-222 RelatedInformation

BACKGROUND--Histiocytosis of Langerhans cells includes a range of clinical manifestations that have been described as bone eosinophilic granuloma, Hand-Schüller-Christian syndrome, Letterer-Siwe syndrome and Hashimoto-Pritzker histiocytosis. These syndromes represent a spectrum of severity and prognosis of the same underlying disorder which is usually sporadic. It has occurred in monozygotic twins and in a familial pattern. This report describes monozygotic twins who developed the disease a few months after their father was found to be suffering from Hodgkin's disease. Case n. 1.--A 4 month-old girl was admitted because of fever, disseminated lymphadenopathy and hepatomegaly. She also had interstitial pneumonia. Infiltrating abnormal histiocytes were demonstrated in lymph node and bone marrow biopsies. X-rays showed lytic areas in the skull. Serology for EBV infection was negative. Special studies with immune markers of lymph node histiocytes confirmed the diagnosis of Langerhans cell histiocytosis, and more precisely, Letterer-Siwe syndrome. The patient was given prednisolone followed by vinblastine without success. She was given etoposide 11 weeks later, which induced remission. This treatment was replaced by vinblastine when the patient was aged 2 years 9 months. Case n. 2.--The monozygotic twin of the case n. 1 was also admitted at 4 months of age because of the same manifestations. Laboratory findings were identical to those of her sister, as was her response to the same drugs. The father was diagnosed as having Hodgkin's disease 3 months before the first manifestation of Langerhans cell histiocytosis in his daughters. His maternal uncle had also been treated for Hodgkin's disease. Immunologic studies of the twin were negative. CONCLUSION--These cases of Langerhans cell histiocytosis in monozygotic twins have no apparent relationship with the Hodgkin's disease of their father. Etoposide seems to be useful for treating such severe forms of the disease.

Background. - Histiocytosis of Langerhands cells includes a range of clinical manifestations that have been described as bone eosinophilic granuloma, Hand-Schiller-Christian syndrome, Letterer-Siwe syndrome and Hashimoto-Pritzker histiocytosis. These syndromes represent a spectrum of severity and prognosis of the same underlying disorder which is usually sporadic. It has occurred in monozygotic twins and in a familial pattern. This report describes monozygotic twins who developed the disease a few months after their family was found to be suffering from Hodgkin's disease. Case n degrees 1. - A 4 month-old girl was admitted because of fever, disseminated lymphadenopathy and hepatomegaly. She also had interstitial pneumonia. Infiltrating abnormal histiocytes were demonstrated in lymph node and bone marrow biopsies. X-rays showed lytic areas in the skull. Serology for EBV infection was negative. Special studies with immune markers of lymph node histiocytes confirmed the diagnosis of Langerhans cell histiocytosis, and more precisely, Letterer-Siwe syndrome. The patient was given prednisolone followed by vinblastine without success. She was given etoposide 11 weeks later, which induced remission. This treatment was replaced by vinblastine when the patient was aged 2 years 9 months. Case n degrees 2. - The monozygotic twin of the case n degrees 1 was also admitted at 4 months of age because of the same manifestations. Laboratory findings were identical to those of her sister, as was her response to the same drugs. The father was diagnosed as having Hodgkin's disease 3 months before the first manifestation of Langerhans cell histiocytosis in his daughters. His maternal uncle has also been treated for Hodgkin's disease. Immunologic studies of the twin were negative. Conclusion. - These cases of Langerhans cell histiocytosis in monozygotic twins have no apparent relationship with the Hodkin's disease of their father. Etoposide seems to be useful for treating such severe forms of the disease.

Background . — Histiocytosis of Langerhans cells includes a range of clinical manifestations that have been described as bone eosinophilic granuloma. Hand-Schüller-Christian syndrome, Letterer-Siwe syndrome and Hashimoto-Pritzker histiocytosis. These syndromes represent a spectrum of severity and prognosis of the same underlying disorder which is usually sporadic. It has occurred in monozygotic twins and in a familial pattern. This report describes monozygotic twins who developed the disease a few months after their father was found to be suffering from Hodgkin's disease. Case n∘ 1 . — A 4 month-old girl was admitted because of fever, disseminated lymphadenopathy and hepatomegaly. She also had interstitial pneumonia. Infiltrating abnormal histiocytes were demonstrated in lymph node and bone marrow biopsies. X-rays showed lytic areas in the skull. Serology far EBV infection was negative. Special studies with immune markers of lymph node histiocytes confirmed the diagnosis of Langerhams cell histiocytosis, and more precisely. Letterer-Siwe syndrome. The patient was given prednisolone followed blastine when the patient was aged 2 years 9 months. Case n∘ 2 . — The monozygotic twin of the case n∘1 was also admitted at 4 months of age because of the same manifestations. Laboratory findings were identical to those of her sister, as was her response to the same drugs. The father was diagnosed as having Hodgkin's disease 3 months before the first manifestation of Langerhams cell histiocytosis in his daughters. His maternal uncle had also been treated for Hodgkin's disease. Immunologic studies of the twin were negative. Conclusion . — These cases of Langerhams cell histiocytosis in monozygotic twins have no apparent relationship with the Hodgkin's disease of their father. Etoposide seems to be useful for treating such severe forms of the disease.

BACKGROUND:Clear cell sarcoma of tendons and aponeuroses is a rare mesenchymal tumor in childhood. It is difficult to treat and its prognosis is bad.CASE REPORT:A 9 year-old girl was admitted because of persistent pain in the left lower part of her thorax. Clinical examination showed a mass, 4 cm in diameter, embedded in the thoracic wall. Ultrasonography and CT-scan showed that this mass extended between the last ribs to the pleural cul-de-sac. There was no adenopathy and myelogram was normal. Biopsy of the mass showed features of clear cell sarcoma of tendons and aponeuroses. Cytogenetic studies showed translocation t(12;22) (q13-14;q12) in tumor cells. The patient was given chemotherapy followed by complete resection, but the tumor recurred locally 3 months later and the patient died, despite chemotherapy plus radiotherapy, 23 months after the apparent onset of disease.CONCLUSION:Treatment of this type of tumor remains difficult. The existence of a break point on 22q12, as in Ewing sarcoma, suggests that this tumor in of neural crest cell origin.