Juliana Harumi Arita

Teaching Video NeuroImages: Gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C

A 10-year-old boy presented to our hospital with a 3-year history of fall attacks triggered by laughing, leading to a generalized loss of muscle tone without loss of consciousness (video). One year later, motor delayed skills started. Examination showed ataxia, moderate cognitive impairment, and vertical gaze palsy. EEG revealed diffuse slowing and disorganization of background rhythms. Molecular analysis disclosed heterozygosis p.P1007A and p.A1035V mutations, diagnostic of Niemann-Pick disease type C (NPC).

Spontaneous periodic hypothermia and hyperhidrosis: a possibly novel cerebral neurotransmitter disorder

Spontaneous periodic episodes of hypothermia still defy medical knowledge. In 1969, Shapiro et al. described the first two cases of spontaneous periodic hypothermia associated with agenesis of the corpus callosum. Recently, Dundar et al. reported a case of spontaneous periodic hypothermia and hyperhidrosis without corpus callosum agenesis, suggesting that the periodic episodes of hypothermia might be of epileptiform origin. Here we describe two paediatric patients with spontaneous periodic hypothermia without corpus callosum agenesis and demonstrate, to our knowledge for the first time, altered levels of neurotransmitter metabolites within the cerebrospinal fluid.

Menkes disease as a differential diagnosis of child abuse

Professor and Chairman, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM.Received 20 October 2008, received in final form 13 January 2009. Accepted 3 April 2009.Dra Juliana Harumi Arita – Disciplina de Neuropediatria / Departamento de Neurologia e Neurocirurgia - Rua Botucatu 720 - 04023-900 Sao Paulo SP - Brasil. E-mail: julyarita@uol.com.br

Herpes simplex type 1 encephalitis restricted to the brainstem in a pediatric patient.

Herpes simplex encephalitis is a potentially fatal infection of central nervous system that typically involves frontal and temporal lobes. Occasionally, it presents an extratemporal involvement and in rarer cases, it is limited to the brainstem. We describe a case of an adolescent who presented with fever, sore throat, and vertigo. Clinical picture evolved to lethargy, tetraparesis, consciousness impairment, and respiratory failure. MRI showed lesions restricted to the brainstem. PCR of CSF was positive for herpes simplex type 1.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Professor and Chairman, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM.Received 14 September 2007, received in final form 29 November 2007. Accepted 4 February 2008.Dra. Eliete Chiconelli Faria – Rua Jacinto de Lima Santos 263 - 03738-090 Sao Paulo SP - Brasil. E-mail: e.faria@ig.com.br

Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK

AMP-activated protein kinase (AMPK) regulates many different metabolic pathways in eukaryote cells including mitochondria biogenesis and energy homeostasis. Here we identify a patient with hypotonia, weakness, delayed milestones and neurological impairment since birth harbouring a novel homozygous mutation in the AMPK catalytic α-subunit 1, encoded by the PRKAA1 gene. The homozygous mutation p.S487L in isoform 1 present in the patient is in a cryptic residue for AMPK activity. In the present study, we performed the characterization of mitochondrial respiratory properties of the patient, in comparison to healthy controls, through the culture of skin fibroblasts in order to understand some of the cellular consequences of the PRKAA1 mutation. In these assays, mitochondrial respiratory complex I showed lower activity, which was followed by a decrement in the mtDNA copy number, which is a probable consequence of the lower expression of PGC-1α and PRKAA1 itself as measured in our quantitative PCRs experiments. Confirming the effect of the patient mutation in respiration, transfection of patient fibroblasts with wild type PRKAA1 partially restore complex I level. The preliminary clinic evaluations of the patient suggested a metabolic defect related to the mitochondrial respiratory function, therefore treatment with CoQ10 supplementation dose started four years ago and a clear improvement in motor skills and strength has been achieved with this treatment.

LMNB1 mutation causes cerebellar involvement and a genome instability defect

Please cite this article as: José Luiz Pedroso, Veridiana Munford, André Uchimura Bastos, Ligia Pereira de Castro, Victor Hugo Rocha Marussi, Gisele Sampaio Silva, Juliana Harumi Arita, Carlos F.M. Menck, Orlando G. Barsottini , LMNB1 mutation causes cerebellar involvement and a genome instability defect. The address for the corresponding author was captured as affiliation for all authors. Please check if appropriate. Jns(2017), doi: 10.1016/j.jns.2017.06.027