journal
MENU ▼
Read by QxMD icon Read
search

Child Neurology Open

journal
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#1
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#2
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29687030/therapeutic-effect-of-steroids-in-osmotic-demyelination-of-infancy
#3
Lalit R Bansal
An 11-month-old male presented with acute gastroenteritis, seizures, and altered mental status. Laboratory workup revealed serum sodium of 177 mmol/L. Magnetic resonance imaging of the brain showed reduced diffusion in the supratentorial white matter, T2 hyperintensities in the left central pons and midbrain, subacute stroke in the right occipital lobe, and bilateral cerebellar hemorrhagic infarcts. The child was presumed to have hypernatremia-induced central pontine and extrapontine myelinolysis. He received 5 days of high-dose methylprednisolone for persistent encephalopathy and spastic quadriparesis with rapid recovery of his cognitive function and neurological examination...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29687029/de-novo-kcnq2-mutation-in-one-case-of-epilepsy-of-infancy-with-migrating-focal-seizures-that-evolved-to-infantile-spasms
#4
Haolin Duan, Jing Peng, Miriam Kessi, Fei Yin
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29662916/intracranial-hemorrhage-and-autoimmune-thrombocytopenia-in-a-neonate-a-rare-unpredictable-event
#5
Andrea Becocci, Cristina Felice-Civitillo, Méryle Laurent, Françoise Boehlen, Roberta De Luca, Joel Fluss
Neonatal thrombocytopenia is a rare complication of maternal autoimmune thrombocytopenia, and no maternal predictors of its gravity and potential complications have been identified. Neonatal cerebral hemorrhage, a feared event in the setting of autoimmune thrombocytopenia, is fortunately uncommon, but it can occur in utero or in the perinatal period, with potentially serious consequences. The authors report the case of a boy born to a mother affected by autoimmune thrombocytopenia, who presented with severe thrombocytopenia at birth and developed intracranial hemorrhage despite mild maternal thrombocytopenia at delivery and a prompt preventive treatment of the newborn...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29560383/use-of-cyclophosphamide-in-a-child-with-fulminant-acute-disseminated-encephalomyelitis
#6
Hana Ayed, Mohammed W Chaudhary, Raidah AlBaradie, Ali Mir
Acute disseminated encephalomyelitis is an immune-mediated inflammatory demyelinating disorder of the central nervous system. The first-line treatment is usually high-dose intravenous methylprednisolone. Intravenous immunoglobulin and plasmapheresis have also shown to be beneficial. Immunosuppressive agents like cyclophosphamide have been used in adults with fulminant acute disseminated encephalomyelitis. We report a case of a 3-year-old boy with fulminant acute disseminated encephalomyelitis. Minimal improvement was seen with high-dose intravenous methylprednisolone, intravenous immunoglobulin, and plasmapheresis...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29372174/prune-syndrome-is-a-new-neurodevelopmental-disorder-report-and-review
#7
Majid Alfadhel, Marwan Nashabat, Khalid Hundallah, Amal Al Hashem, Ahmed Alrumayyan, Brahim Tabarki
PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE syndrome. Both patients had severe developmental delay, progressive microcephaly, and dysmorphic features. Brain magnetic resonance imaging showed slight thinning in the corpus callosum, mild frontal brain atrophy, and delayed myelination in one of the patients...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29372173/acute-transverse-myelitis-caused-by-echovirus-11-in-a-pediatric-patient-case-report-and-review-of-the-current-literature
#8
Heidi L Moline, Peter I Karachunski, Anna Strain, Jayne Griffith, Cynthia Kenyon, Mark R Schleiss
A 12-year-old boy presented with acute flaccid weakness of the right upper extremity and was found to have acute flaccid myelitis with transverse myelitis involving the cervical cord (C1-T1). An interdisciplinary team-based approach was undertaken, including input from a generalist, an infectious diseases physician, and a pediatric neurologist. Consultation was sought from the Minnesota Department of Health to investigate for a potential etiology and source of the responsible infection. Evaluation for an infectious etiology demonstrated infection with human echovirus 11...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29152528/x-linked-lissencephaly-with-absent-corpus-callosum-and-abnormal-genitalia-an-evolving-multisystem-syndrome-with-severe-congenital-intestinal-diarrhea-disease
#9
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29152527/novel-lrpprc-mutation-in-a-boy-with-mild-leigh-syndrome-french-canadian-type-outside-of-qu%C3%A3-bec
#10
Velda Xinying Han, Teresa S Tan, Furene S Wang, Stacey Kiat-Hong Tay
Background: Leigh syndrome, French-Canadian type is unique to patients from a genetic isolate in the Saguenay-Lac-Saint-Jean region of Québec. It has also been recently described in 10 patients with LRPPRC mutation outside of Québec. It is an autosomal recessive genetic disorder with fatal metabolic crisis and severe neurological morbidity in infancy caused by LRPPRC mutation. Methods and Results: The authors report a boy with a novel LRPPRC compound heterozygous missense mutations c...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29147671/distal-22q11-2-microduplication-case-report-and-review-of-the-literature
#11
Elana Pinchefsky, Laurence Laneuville, Myriam Srour
Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal 22q11.2 duplications. Common features include developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphisms (74%)...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29119126/phenotypic-heterogeneity-of-the-m-14459g-a-mutation
#12
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29094055/effect-of-menstrual-cycle-on-acute-intermittent-porphyria
#13
V R Souza Júnior, V M V Lemos, I M L Feitosa, R Florencio, C W B Correia, L B Correia Fontes, M F Hazin Costa, M C B Correia
A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. In those admissions, she showed dysautonomia, vomiting, and abdominal pain...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#14
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29051909/performance-monitoring-in-children-following-traumatic-brain-injury-compared-to-typically-developing-children
#15
Amy A Wilkinson, Maureen Dennis, Margot J Taylor, Anne-Marie Guerguerian, Kathy Boutis, Karen Choong, Craig Campbell, Douglas Fraser, Jamie Hutchison, Russell Schachar
Children with traumatic brain injury are reported to have deficits in performance monitoring, but the mechanisms underlying these deficits are not well understood. Four performance monitoring hypotheses were explored by comparing how 28 children with traumatic brain injury and 28 typically developing controls (matched by age and sex) performed on the stop-signal task. Control children slowed significantly more following incorrect than correct stop-signal trials, fitting the error monitoring hypothesis. In contrast, the traumatic brain injury group showed no performance monitoring difference with trial types, but significant group differences did not emerge, suggesting that children with traumatic brain injury may not perform the same way as controls...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/28975137/rapid-resolution-of-enterovirus-71-associated-opsoclonus-myoclonus-syndrome-on-intravenous-immunoglobulin
#16
Ahmed Sahly, Laurence Gauquelin, Guillaume Sébire
Nonparaneoplastic opsoclonus-myoclonus ataxia syndrome is a rare neuroinflammatory condition featured by opsoclonus, myoclonus, ataxia, and cognitive behavioral disturbance. The authors report an observation of enterovirus 71-associated opsoclonus-myoclonus ataxia syndrome evolving toward full recovery on intravenous intravenous immunoglobulin (IG) treatment. Based on this case report, enterovirus 71 should be added to the list of infectious agents likely involved in opsoclonus-myoclonus ataxia syndrome, including the emerging subgroup of opsoclonus-myoclonus ataxia syndrome recovering without aggressive or prolonged immunosuppressive intervention...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/28959702/symptomatic-neonatal-arterial-ischemic-stroke-with-prenatal-and-postnatal-neuroimaging
#17
Mati Pulver, Kristiina Juhkami, Dagmar Loorits, Pilvi Ilves, Jaanika Kuld, Eve Õiglane-Šlik, Tuuli Metsvaht, Rael Laugesaar
The authors report a girl born at term via planned cesarean delivery. Three days earlier, an antenatal magnetic resonance imaging study, showing no cerebral lesions in the fetus, was performed. Ten minutes after delivery, signs of progressive respiratory failure developed and the infant was transferred to the intensive care unit. On the next day, a computed tomography (CT) scan showed acute ischemic lesions in the areas of the left middle and posterior cerebral arteries. The exact mechanism of stroke remained unidentified...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/28944253/psychological-assessment-of-patients-with-biotin-thiamine-responsive-basal-ganglia-disease
#18
Majid Alfadhel, Amal Al-Bluwi
Biotin-thiamine-responsive basal ganglia disease is a devastating autosomal recessive inherited neurological disorder. We conducted a retrospective chart review of all patients with biotin-thiamine-responsive basal ganglia disease who underwent a formal psychological assessment. Six females and 3 males were included. Five patients (56%) had an average IQ, two patients (22%) had mild delay, and two (22%) had severe delay. A normal outcome was directly related to the time of diagnosis and initiation of treatment...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/28856174/a-rare-syndrome-of-grid2-deletion-in-2-siblings
#19
Aravindhan Veerapandiyan, Stephanie Enner, Venkatraman Thulasi, Xue Ming
The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/28856173/a-case-of-brown-vialetto-van-laere-syndrome-due-to-a-novel-mutation-in-slc52a3-gene-clinical-course-and-response-to-riboflavin
#20
Venkatraman Thulasi, Aravindhan Veerapandiyan, Beth A Pletcher, Chun M Tong, Xue Ming
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait...
January 2017: Child Neurology Open
journal
journal
54372
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"