Stroke Presentation in an Adolescent with mild Hemoglobin SC disease
| Autor: | Rebecca O. Clark, Javier A. Padial, Jean M. Bennett |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Hemoglobin SC Disease business.industry medicine.medical_treatment Internuclear ophthalmoplegia Exchange transfusion medicine.disease Thrombophilia Dysdiadochokinesia Hemoglobin C Stenosis Pediatrics Perinatology and Child Health medicine medicine.symptom business Stroke |
| Zdroj: | Pediatrics. 147:1056-1056 |
| ISSN: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.147.3ma11.1056 |
| Popis: | Background: In individuals affected with Hemoglobin SC (HbSC) disease, one β globin gene is affected by thesickle mutation (position 6, a single-base pair change encodes valine instead of glutamine) while the other βglobin gene contains a mutation for hemoglobin C (position 6, lysine is encoded instead of glutamine) In thiscompound heterozygous state individuals typically present with a milder sickle cell disease (SCD) coursecompared to those with homozygous HbS (HbSS) disease Although children with HbSC disease experience asignificant incidence of silent cerebral infarcts, acute stroke presentation is exceptionally rare Herein wedescribe a case of an adolescent male with historically uncomplicated HbSC disease, and otherwiseunremarkable sickle cell surveillance labs on admission presenting with new acute onset stroke CasePresentation: Our patient is a 16 year old male with uncomplicated HbSC disease and no history ofhospitalizations for vasoocclusive crisis He presented with 48 hours of difficulty focusing out of his left eye Physical exam revealed impaired right eye adduction, left eye nystagmus on lateral left gaze, and decreased sensation to touch to the left hemi face and left arm Strength and deep tendon reflexes were normal Normalgait was observed and he had no dysdiadochokinesia STAT MRI orbit and brain with contrast revealedmultiple foci of acute infarct involving the pons and left cerebral peduncle Vessel imaging with MRA wasconcerning for internuclear ophthalmoplegia secondary to stenosis in the posterior cerebral circulation Vitalsigns were normal for age and labs were overall mild and unchanged from his baseline (WBC 8750/mcL,Hemoglobin 13 5g/dL, Platelets 290,000/mcL, Reticulocyte 2 11%, CRP |
| Databáze: | OpenAIRE |
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