[Neonatal muscular spinal atrophy: a case report]. / Atrofia muscolare spinale ad esordio neonatale: descrizione di un caso.

Spinal Muscular Atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletions of the survival motor neuron (SMN) gene localised on chromosome 5q13. Pathological studies show decreased numbers of motorneurons in spinal cord. SMA was initially sub-classified clinically into three types base on age at onset and clinical course. SMA type 1, Werdnig-Hoffmann disease, has an onset within the first 6 months and death within the first two years. In contrast, SMA type II has an onset after six months of life and the children achieve the ability to sit unaided. Children with SMA type III (Kugelberg-Welander) usually have normal milestones in the first year and achieve the ability to walk but then show evidence of mild weakness. The prognosis is good and the clinical course is not (or very slowly) progressive. Recently, Dubowitz described a new form of SMA called type 0 with a neonatal onset, facial weakness, progressive and fatal clinical course. These infants show generalised hypotonia, the lower limbs are more affected than the upper with marked weakness of all axial muscles. We report a case of SMA, uncommon for the early onset and the respiratory difficulties. The diagnosis has been done by genetic analyses showing a SMN mutation.

[Headache as atypical presentation of celiac disease: report of a clinical case]. / La cefalea quale presentazione atipica di malattia celiaca: descrizione di un caso clinico.

Coeliac disease (CD) is a gluten dependent enteropathy with genetic predisposition. The introduction of the gluten with the diet leads to a damage of the intestinal mucosa losing the ability of absorption. Together with the "classic forms", in wich the intestinal symptomatology is prevalent, there are atypical forms, with unusual clinical presentation and silent forms with no clinical symptoms. The neurologic symptoms are not frequent and regard seizures, headache, ataxia and psychiatric problems. We report on a patient with headache since 3 years of age in which the headache the only manifestation of CD. The diagnosis of CD was made at 11 years, when he came at our observation for episodes of headache. Also the older sister is found affected by CD. After three months of gluten free diet, it was obtained the complete resolution of the headache. Also if the pathogenesis of the headache in patient with CD is unknown we think that a autoimmune, vascular or blood flow mechanism could be ipotizeable.