Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti-N-methyl-D-aspartate receptor encephalitis.

Aim: We report four cases of acquired severe encephalopathy with massive hyperkinesia, marked neurological and cognitive regression, sleep disturbance, prolonged mutism, and a remarkably delayed recovery (time to full recovery between 5 and 18mo) with an overall good outcome, and its association with anti-N-methyl-d-aspartate (anti-NMDA) receptor antibodies.

Method: We reviewed the four cases retrospectively and we also reviewed the literature.

Results: Anti-NMDA receptor antibodies (without ovarian teratoma detected so far) were found in the two children tested in this study.

Is benign myoclonic epilepsy of infancy truly idiopathic and generalized?

Benign myoclonic epilepsy of infancy is recognized as a generalized and idiopathic epilepsy by the International League Against Epilepsy. Unprovoked and reflex seizures have been reported in these patients. We describe a child diagnosed with benign myoclonic epilepsy of infancy, whose strictly unilateral and localized reflex myoclonias broaden the clinical spectrum of this idiopathic and generalized epileptic syndrome, and raise interrogations about its underlying pathophysiological mechanisms.

Alexander disease: early presence of cerebral MRI criteria.

Alexander disease is a rare neurodegenerative disorder. Its most frequent subtype, the infantile form, is characterized by an early onset and a rapid neurological deterioration during the first months of life. Since the publication of cerebral radiological criteria in 2001, the disease has often been recognized by magnetic resonance imaging (MRI) findings.

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

The PTEN hamartoma tumor syndrome, manifestations of which include Cowden disease and Bannayan-Riley-Ruvalcaba syndrome, is caused by various mutations of the PTEN gene located at 10q23. Its major criteria are macrocephaly and a propensity to develop breast and thyroid cancers as well as endometrial carcinoma. Minor diagnostic criteria include hamartomatous intestinal polyps, lipomas, fibrocystic disease of the breasts, and fibromas.

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.

[How should a muscular disease be studied?].

Muscle diseases are an expanding field, mainly due to the progress in genetics and biochemistry. Evaluation starts with a thorough history of the patient's symptoms and signs. The leading clinical manifestations are weakness, atrophy, myalgia, fatigue, more rarely myotonia and in the child hypotonia or walking difficulty.

[Dizziness, syncope, and other consciousness loss in children].

Episodes of loss of consciousness and dizziness are frequent in children and adolescents. The causes are quite variable, most are harmless, some more worrisome. The correct diagnosis can most often be made by recognition of the characteristic sequence of the clinical symptoms and signs.

Epileptic falls and gait disturbance in two young children with a sharp wave focus at the vertex: a variant of benign partial epilepsy of childhood?

We describe two young children who presented with frequent falls and myoclonic jerks affecting the trunk and legs associated with a sharp and slow wave epileptic focus at the vertex. The initial neurological examination and brain magnetic resonance imaging were normal. Both patients had a persistent gait dysfunction, sometimes asymmetrical, fluctuating with the intensity of the epilepsy and the electroencephalogram abnormalities.

Early onset and rapidly progressive subacute sclerosing panencephalitis after congenital measles infection.

Unlabelled: We report an 18-month-old girl with rapidly progressive subacute sclerosing panencephalitis, whose non immunised mother had measles at the time of delivery. The patient presented with repetitive episodes of myoclonic jerks of the head and arms, followed by a drop of head and trunk with frequent falls. EEG, CSF studies and MRI confirmed the diagnosis.

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

Multi-minicore disease is an autosomal recessive congenital myopathy characterized by the presence of multiple, short-length core lesions (minicores) in both muscle fiber types. These lesions being nonspecific and the clinical phenotype being heterogeneous, multi-minicore disease boundaries remain unclear. To identify its genetic basis, we performed a genome-wide screening in a consanguineous Algerian family in which three children presented in infancy with moderate weakness predominant in axial muscles, pelvic girdle and hands, joint hyperlaxity (hand involvement phenotype), and multiple minicores.