Ketogenic Diet and Drug-Induced Hepatotoxicity During Tuberculosis Treatment.

When therapy with hepatotoxic drugs is being considered, all other possible contributing agents of liver damage should be held to account. While not generally considered a risk factor, we present 2 cases in which ketogenic diet (KD) may have played a role in liver injury due to antituberculosis drugs. Ketogenic diet has been linked to liver injury, and while its pathophysiology remains obscure, carnitine depletion could play a role, as it is a mechanism of liver damage common to KD and antituberculosis drug regimens.

Dengue Virus Serotype 2 Intrahost Diversity in Patients with Different Clinical Outcomes.

Intrahost genetic diversity is thought to facilitate arbovirus adaptation to changing environments and hosts, and it might also be linked to viral pathogenesis. Dengue virus serotype 2 (DENV-2) has circulated in Brazil since 1990 and is associated with severe disease and explosive outbreaks. Intending to shed light on the viral determinants for severe dengue pathogenesis, we sought to analyze the DENV-2 intrahost genetic diversity in 68 patient cases clinically classified as dengue fever ( = 31), dengue with warning signs ( = 19), and severe dengue ( = 18).

Identification of novel genetic causes of Rett syndrome-like phenotypes.

Background: The aim of this work was to identify new genetic causes of Rett-like phenotypes using array comparative genomic hybridisation and a whole exome sequencing approach.

Methods And Results: We studied a cohort of 19 Portuguese patients (16 girls, 3 boys) with a clinical presentation significantly overlapping Rett syndrome (RTT). Genetic analysis included filtering of the single nucleotide variants and indels with preference for de novo, homozygous/compound heterozygous, or maternally inherited X linked variants.

Sulfite oxidase deficiency--an unusual late and mild presentation.

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency.

Ophthalmoplegic migraine with persistent dilated pupil.

Ophthalmoplegic migraine is a rare disorder characterized by childhood-onset ophthalmoplegia and migraine headaches. The third cranial nerve is commonly involved, while involvement of the sixth and fourth cranial nerves is uncommon. We present the case study of a 15-year-old female teenager whose condition was diagnosed with ophthalmoplegic migraine when she was 9 years old and since then has experienced multiple and recurrent attacks.

Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child.

Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood.