Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy

Publication date: Available online 17 January 2020Source: International Journal of Pediatrics and Adolescent MedicineAuthor(s): Haya S. AlFaris, Ghasan Elhissi, Aziza Chedrawi, Mohammad Al-MuhaizeaAbstractRecessive congenital methemoglobinemia (RCM) is a rare neurological disorder caused by a deficiency in NADH-CYB5R. RCM has two main types I&II, with cyanosis being the hallmark feature in both. Type-I is a mild form, with cyanosis being the only feature. While type-II is the severe form with prominent neurological symptoms including, dystonia and spasticity. However, the cyanosis is subtle and difficult to appreciate. The cyanosis in RCM is treated with ascorbic-acid or methylene-blue. However, those treatments will not alter the neurological complication. In this paper, we report two cases of RCM type-II in Saudi siblings. They presented with cyanosis at birth, a CO-oximetry was done showing a high level of methemoglobin and a trail of methylene blue was used. The siblings were followed up and showed signs of developmental delay, hypotonia, exaggerated reflex, and seizure. A genetic analysis was requested, which showed missense mutation (c.274 C>T), leading to amino acid substitution; p.Arg92Trp.
Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research

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Paroxysmal sympathetic hyperactivity (PSH) has predominantly been described after traumatic brain injury (TBI), which is associated with hyperthermia, hypertension, tachycardia, tachypnea, diaphoresis, dystonia (hypertonia or spasticity), and even motor features such as extensor/flexion posturing. Despite the pathophysiology of PSH not being completely understood, most researchers gradually agree that PSH is driven by the loss of the inhibition of excitation in the sympathetic nervous system without parasympathetic involvement. Recently, advances in the clinical and diagnostic features of PSH in TBI patients have reached a...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
CONCLUSIONS AND CLINICAL IMPLICATIONS: Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms. PMID: 31956970 [PubMed - as supplied by publisher]
Source: Neurologia i Neurochirurgia Polska - Category: Neurology Authors: Tags: Neurol Neurochir Pol Source Type: research
ConclusionIn the present study, we found four patients in three Japanese families with novelVPS13D mutations, which may broaden the clinical and genetic findings forVPS13D‐related disorders.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Elevated temporal discrimination thresholds (TDT) have been found in cervical dystonia (CD) and unaffected first-degree relatives, indicating autosomal dominant inheritance with reduced penetrance, serving as an endophenotype and being indicative of abnormal inhibitory processing within the brainstem-basal ganglia circuits. The blink reflex R2 recovery cycle (BRRC) is also a measure of excitability of brainstem-basal ganglia circuits, and inconsistent findings are reported in CD. The aim was to investigate TDT and BRRC in CD and evaluate its reliability as an endophenotype.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Short communication Source Type: research
Discussion The mandible normally grows in a symmetric downward and forward movement relative to the skull base. The condyle is the primary growth center. “The mandible is unique in that its 2 joints and growth centers function together as a single unit.” It is the last bone in the body to reach skeletal maturity. The mandible and its growth are important for maxillary growth and therefore many problems that affect the mandible affect the facial and skulls structures as well. These growth problems can be relatively insidious and therefore may need monitoring over longer periods of time such as patients with unde...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
We report a 48-years-old male, who developed numerous motor/vocal tics two months after sustaining non-commotional craniofacial trauma in a car accident. Both his father and brother had died earlier in car crashes. He presented with blepharospasm-like forced lid closure, forceful lip pursing, noisy suction movements, and deep moaning sounds, occurring in variable combinations, without warning symptoms or internal “urge”. Tics showed low distractibility and increased with attention. Standard magnetic resonance imaging, electroencephalography, and evoked potentials were unremarkable. Neuropsychology diagnosed mod...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Abstract Movement disorders observed following peripheral nerve injury and muscle reinnervation suggest discoordination in the activation of antagonist muscles. Although underlying mechanisms remain undecided, dysfunction in spinal reflex circuits is a reasonable candidate. Based on the well known role of reflex inhibition between agonist and antagonist muscles in normal animals, we hypothesized its reduction following muscle reinnervation, similar to that associated with other disorders exhibiting antagonist discoordination, e.g. spinal cord injury and dystonia. Experiments performed on acutely-decerebrated rats ...
Source: Experimental Neurology - Category: Neurology Authors: Tags: Exp Neurol Source Type: research
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T>C mutation has bee...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Source: Neurocritical Care - Category: Neurology Source Type: research
A Chinese scientist shocked the scientific community a couple of days ago with the announcement of having modified the very blueprint of life. If his claims are true, he tried to bestow two baby girls the ability to resist possible future infections with HIV. The outrage shows that humanity is not prepared to utilize the power of gene editing on embryos yet. We have no idea about the biological consequences, and we haven’t tackled the necessary legal and ethical issues. Genes to become toys of the “Gods”? Humanity has come a long way since Aldous Huxley pinned down how methods of genetic engineering, bio...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Bioethics Future of Medicine Genomics designer babies designer baby Gene gene editing genes Genome genome sequencing Health Healthcare healthcare system Innovation technology Source Type: blogs
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