Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.

Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.

Acute ophthalmoparesis associated with anti-GM1, anti-GD1a, and anti-GD1b antibodies after enterovirus infection in a 6-year-old girl.

This article presents a 6-year-old girl who developed acute unilateral third cranial nerve palsy in the absence of any other sign of central nervous system involvement. Raised titers of immunoglobulin M antibodies against GM1, GD1a, and GD1b ganglioside components were demonstrated. Ten days earlier, the girl had experienced acute gastroenteritis with positive specific immunoglobulin M antibodies against enterovirus. The results of all other laboratory tests usually performed for infectious diseases were negative, and neuroradiologic findings were also normal. Oral prednisone was administered for a few days, and the ophthalmoparesis fully resolved within 1 month. Two months later, a second episode of isolated ophthalmoparesis occurred, again associated with a positive immunoglobulin M reaction against GM1, GD1a, and GD1b antigens. This report discusses the relationship between acute isolated ophthalmoparesis and antiganglioside antibodies.

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving into spasticity. Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment. Phenotypic spectrum continues to evolve and genotype-phenotype correlations are currently limited. Due to the overlapping phenotypes and heterogeneity of clinical findings characterization of the syndrome is not always achievable. We reviewed the most recent clinical and neuroradiological information in the way to make easier differential diagnosis with other degenerative disorders in the paediatric age. Recognizing subtle signs and symptoms is a fascinating challenge to drive towards better diagnostic and genetic investigations.

Stress fracture of the peroneal bone secondary to a complex tic.

Complex tics have been widely reported in literature, especially in children with Tourette syndrome. We describe the case of a fracture line of both peroneal bones in a 13-year-old child with Tourette syndrome and obsessive-compulsive disorder. He was admitted to our hospital because of pain in his legs. Radiography showed fractures of both peroneal bones, more marked on the left side. The clinical history was strongly suggestive of obsessive-compulsive disorder and Tourette syndrome with associated simple and complex motor tics. Radiographic follow-up showed spontaneous resolution of the fractures.

CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature.

BACKGROUND: Guillain-Barré syndrome is the most frequent cause of flaccid paresis in Western countries. Moreover, CMV infection is the most common antecedent viral infection in adult patients and the presence of specific IGM antiganglioside antibodies is often identified. Instead, Guillain-Barré syndrome following CMV infections is rarely reported in childhood and often presents severe symptoms at onset and longer recovery times. MATERIAL AND METHODS: One year of clinical, electrophysiological and serological follow-up of a 9-year old child with axonal sensory-motor Guillain-Barré syndrome following CMV infection is reported. Moreover, the literature data on paediatric sensory-motor axonal GBS and GBS secondary to CMV infection and antiganglioside antibodies are reviewed. RESULTS: Our patient presented with paraesthesias and a pattern of weakness showing proximal predominance and affecting the upper limbs more than the lower limbs. At nadir, unilateral facial palsy was also present and he was unable to walk. Electroneurography showed motor-sensory axonal damage. Both anti-CMV and anti-GM2 IgM were positive. After early treatment with IVIG and IV methylprednisolone the patient recovered deambulation. Six months later, his neurological examination was normal and electroneurography showed normal data. CONCLUSION: The sensory-motor axonal form of Guillain-Barré syndrome following CMV infection may present a good prognosis and a prompt full recovery also in children, if adequate treatment is started in time.

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.

BACKGROUND: Mutations in the gene PRRT2 have been identified in a variety of early-onset paroxysmal disorders. To date associations between PRRT2 mutations and benign myoclonus of early infancy have not been reported. CLINICAL REPORT: We describe a baby affected by PRRT2 mutation and benign infantile epilepsy, with an episode of focal status epilepticus. During follow-up he developed benign myoclonus of early infancy. DISCUSSION: We hypothesize a pathogenic role of PRRT2 mutation in inducing benign myoclonus of early infancy, similarly to that at the origin of other PRRT2-related paroxysmal movement disorders, such as paroxysmal kinesigenic dyskinesia. CONCLUSIONS: Currently the function of PRRT2 is poorly understood, even if a marked pleiotropy and variable penetrance of its mutations are well known. Our case concurs in expanding the broad clinical spectrum of PRRT2-related disorders.