Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Congenital methemoglobinemia type II in a 5-year-old boy.

ABSTRACT: Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger-scale genetic studies.

SUBMITTER: Mannino EA

PROVIDER: S-EPMC5771927 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Congenital methemoglobinemia type II in a 5-year-old boy.

Mannino Elizabeth A EA Pluim Thomas T Wessler Jacob J Cho Megan T MT Juusola Jane J Schrier Vergano Samantha A SA

Clinical case reports 20171207 1

Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, <i>CYB5R3</i>, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger-scale genetic studies. ...[more]

PMID: 29375859

Similar Datasets

Isoniazid toxicity in a 5-year-old boy.

Project description: Not available

| S-EPMC3707995 | biostudies-literature

Magnet ingestion by a 3-year-old boy.

Project description: Not available

| S-EPMC3735745 | biostudies-literature

Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report.

Project description:BackgroundThe understanding regarding genetic variation, pathophysiology, and complications associated with pyruvate kinase deficiency (PKD) in red blood cells has been explained largely, and supportive treatment is currently the main management strategy. Etiotropic managements, including transplantation and genome editing, supplying for substitute dugs of the pyruvate kinase, are all under research.Case summaryWe herein report a 3-year-old boy with severe transfusion-dependent PKD cured by unrelated identical peripheral blood stem cell transplantation (PBSCT). Hemoglobin was corrected to a normal level by gene correction after PBSCT, with no complication related to the transplantation.ConclusionHematopoietic stem cell transplantation could be a substitute for transfusion-dependent PKD.

| S-EPMC8058671 | biostudies-literature

Multimodal imaging features of a spontaneously resolved unilateral congenital macrovessel-related macular edema in a 13-year-old boy.

Project description:Purpose: Congenital retinal macrovessels (CRM) are large aberrant blood vessels that cross the horizontal raphe. Visual acuity may be negatively affected in cases afflicted with CRM due to macular serous detachment, hemorrhage, exudation, foveolar cyst formation and retinal artery occlusion. Even the presence of an anomalous vessel itself running through the foveal avascular zone may compromise the visual acuity. In this case report, we discuss the multimodal imaging characteristics of a case of symptomatic unilateral CRM-related cystoid macular edema and serous macular detachment in a 13-year-old boy. Observations: Optical coherence tomography angiography (OCTA) imaging of the superficial retina revealed the aberrant vessel and anomalous arteriovenous communication between the aberrant vessel and the retinal artery. The foveal avascular zone also appeared partly distorted. Conclusions: The present case reports the second-youngest patient afflicted with unilateral CRM and associated macular edema. There was spontaneous resolution of macular edema within six weeks. In light of the observations in this case and the literature review, the need to refrain from rapid therapeutic intervention in the eyes of patients affected with CRM and macular edema must be emphasized.

| S-EPMC7488865 | biostudies-literature

Acute infantile liver failure syndrome type 2 in a 2.5-year-old boy: A case report.

Project description:Key clinical messageInfantile liver failure type 2 is described as repeated attacks of liver dysfunction with remission. This syndrome should be considered in the differential diagnosis of any child with symptoms of recurrent hepatic encephalopathy.AbstractInfantile liver failure syndrome 2 is described as recurrent attacks of liver dysfunction. ILFS2 should be included in the differential diagnosis of children with frequent and acute liver failure. We present a 2.5-year-old boy with clinical manifestation of acute liver failure. In past, he had two similar attacks.

| S-EPMC10485241 | biostudies-literature

A 15-Year-Old Boy with Dyspnea and Vanishing Bones.

Project description: Not available

| S-EPMC7924538 | biostudies-literature

A 12-year-old boy with fever and weight loss.

Project description: Not available

| S-EPMC8448499 | biostudies-literature

Congenital left main coronary artery atresia presenting as syncope and generalized seizure during exercise in a 13-year-old boy.

Project description:We report the case of a 13-year-old boy who, while running in a school gymnasium, experienced sudden syncope and seizure. CPR was started immediately, and an automated external defibrillator (AED) was attached, but shock was not induced. He was referred to our hospital for loss of consciousness and intermittent general tonic-clonic seizure. A 12-lead electrocardiogram showed normal sinus rhythm and no ST-T wave abnormalities. Echocardiography showed normal structural heart and normal cardiac function. On the second day of hospitalization, AED electrocardiogram showed complete atrioventricular (AV) block at syncope and seizure. After the patient recovered from this neurological state, we performed the treadmill exercise test, and it did not show ST-T wave abnormalities or AV block, and he did not complain of chest pain. Coronary angiography showed atresia of the left main trunk and the collateral vessel from the right coronary artery connected to the left coronary artery. He was diagnosed with congenital left main coronary artery atresia. We began administration of calcium antagonist and aspirin to prevent a coronary artery spasm and then performed a coronary artery bypass graft (CABG) to prevent sudden cardiac death. After CABG, he has had no syncope episodes at rest or during light exercise. <Learning objective: In pediatric patients, syncope during strenuous exercise should mandate exclusion of cardiac events, especially coronary artery anomalies. Coronary artery anomalies that could cause sudden cardiac death sometimes show no abnormalities at rest or even during exercise stress on 12-lead electrocardiogram. It is very important to suspect cardiogenic syncope during strenuous exercise.>.

| S-EPMC6149280 | biostudies-literature

Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome.

Project description:Netherton syndrome (NS) is a rare autosomal recessive disorder, characterized by a classical triad of clinical features, including congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis coupled with frequent bacterial infections (1). The genetic basis for the disease has been recently identified with mutations in gene SPINK5, which is involved in the regulation of formation of skin barriers. We report on a 16-year-old male with all the typical manifestations of NS, including atopic diathesis and ongoing serious staphylococcal infections and allergy to multiple antibiotics whose family sought help at the Eliava Phage Therapy Center when all other treatment options were failing. Treatment with several antistaphylococcal bacteriophage preparations led to significant improvement within 7?days and very substantial changes in his symptoms and quality of life after treatment for 6?months, including return visits to the Eliava Phage Therapy Center after 3 and 6?months of ongoing use of phage at home.

| S-EPMC5494523 | biostudies-literature

Abernethy malformation (Type 1B) presenting in a 6-year-old boy with hematochezia and hematuria: A case report.

Project description:Abernethy malformation (Type 1B) presenting in a 6-year-old boy with hematochezia and hematuria: a case report Abernethy malformation is a rare congenital vascular abnormality defined by the diversion of portal blood flow to the inferior vena cava or its tributaries. Clinical presentations include neonatal cholestasis, liver tumors, and encephalopathy but variables in timing and symptomatology. Herein, we present a 6-year-old boy was referred to our hospital with complaints of hematochezia, hematuria, fecal, and urinary incontinence. A diagnosis of type 1b malformation was made depending on magnetic resonance angiography and cardiac catheterization findings, which demonstrated that the superior mesenteric vein and splenic vein joined to form a common trunk measuring 38 mm diameter and then drained into the dilated inferior vena cava with the absence of portal vein abnormalities in the liver. With further investigations, we indicated the presence of many arteriovenous malformations and urogenital abnormalities. The patient was managed conservatively.

| S-EPMC9283795 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data