[Jarcho-Levin syndrome. Description of a clinical case with familial 14;21 translocation]. / Sindrome di Jarcho-Levin. Descrizione di un caso clinico con traslocazione 14;21 familiare.

The authors report the case of a child born at the Fatebenefratelli Hospital in Benevento with spondylo-costal dysplasia (SCD). SCD ia a rare association of vertebral and costal anomalies which was first described in 1938 by Jarcho and Levin. The fundamental characteristic of SCD is the anomalous nature of the vertebrae and ribs and, for this reason, subjects affected by SCD are above all short stature and present major physical malformations. In genetic terms, the pathology can be subdivided into three sub-groups based on the type of transmission: a) a dominant autosomic form, benign evolution; b) a recessive autosomic form, very severe; c) a recessive autosomic version with a relatively benign evolution. The case in question concerned a newborn suffering from severe bodily disharmony with dysmorphic features. Family medical history only showed diabetes mellitus and kyphoscoliosis in the paternal grandfather. The physiological anamnesis was completely negative (born at term, elective cesarean section) except for the fact that the mother had received estroprogestin therapy between the 2nd and 5th month of pregnancy due to partial placenta previa. The radiographic examination of the skeleton showed profound alterations of the vertebral column due to the presence of numerous hemispondyls, multiple costal malformations with segmentary synostosis and brachycephaly.(ABSTRACT TRUNCATED AT 250 WORDS)

[Transient alkaline hyperphosphatemia of childhood. Description of a clinical case]. / Iperfosfatasemia alcalina transitoria dell'infanzia. Descrizione di un caso clinico.

Transient idiopathic alkaline hyperphosphatasemia is a syndrome of unknown etiology unrelated to any specific disease, characterized by a marked transient increase of the serum level of alkaline phosphatase. About fifty-two cases of them included from thirty-seven to two months have been reported in Literature till now. A new case of a little girl four years and three months old is reported here.

[Esophageal achalasia in childhood. Description of a clinical case]. / Acalasia esofagea in età pediatrica. Descrizione di un caso clinico.

Esophageal achalasia is a very rare pathology in pediatric age. The authors have thought opportune to signal a case in a little girl also in consideration of some symptomatical peculiarities: sudden beginning and worsening course without appreciable repercussions on the state of nutrition. The diagnostic and therapeutic problem is confronted in the light of the latest informations from literature.

[Cardiomyopathy in Friedreich's ataxia]. / La cardiomiopatia nella atassia di Friedreich.

Friedreich's ataxia (FA) is an hereditary degenerative disease involving the spino-cerebellar via which in 10-15% of the cases is associated with symptomatic cardiac disease. Abnormal ECG or ECHO finding are present even in absence of cardiac symptoms in 100% of the patients. A 7 y.o. girl with the clinical picture of FA with cardiac involvement is presented. The features of the cardiomyopathy present in FA studied with ECHO, myocardial perfusion with Thallium 201 and with histologic examination and its relationship with the hypertrophic cardiomyopathy are discussed. Different theories aiming to discover a unique biochemical factor responsible of both the neurological and cardiac disorders are presented.

A case of hyperimmunoglobulinemia E treated with cow's milk and egg-free diet.

This report is of seven-year-old girl with a lifelong history of severe eczema, intestinal features of food allergy, recurrent respiratory tract infections, chronic bilateral keratitis and mucocutaneous candidiasis. Immunological tests showed high serum IgE levels, with specific IgE antibodies to cow's milk and egg white, defective PMN chemotaxis and a marked defect in both the function and number of T-lymphocytes. On a cow's milk-free and egg-free diet the eczema subsided and the respiratory infections improved. A partial correction of the immunodeficiency was also observed. The relationships between the immune system and atopy are discussed.