scholarly journals An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome

2020 ◽  
Vol 12 (2) ◽  
pp. 165-168
Author(s):  
Roshni Dhoot ◽  
Katelyn Payne ◽  
John K. Fink ◽  
Robert M. Pascuzzi
Keyword(s):  
Differential Diagnosis ◽  
Movement Disorders ◽  
Digeorge Syndrome ◽  
Clinical Phenotype ◽  
Spastic Paraparesis ◽  
22Q11.2 Deletion ◽  
Neurologic Disorders ◽  
Structural Abnormalities ◽  
Spine Movement ◽  
Insight Into

DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy. Progressive spastic paraparesis has not been reported with DiGeorge syndrome. We report an individual in which DiGeorge syndrome was associated with progressive spastic paraparesis. This report extends the clinical phenotype of DiGeorge syndrome and presents the differential diagnosis of progressive spastic paraparesis in individuals with DiGeorge syndrome which provides insight into the clinical evaluation of such individuals.

scholarly journals REM density in the differential diagnosis of psychiatric from medical-neurologic disorders: A replication

1981 ◽  
Vol 5 (3) ◽  
pp. 267-276 ◽  
Author(s):  
Doug King ◽  
Hagop S. Akiskal ◽  
Helio Lemmi ◽  
William Wilson ◽  
Joe Belluomini ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neurologic Disorders ◽  
Rem Density

scholarly journals Clozapine-induced myocarditis in an adolescent male with DiGeorge Syndrome

2018 ◽  
Vol 8 (6) ◽  
pp. 313-316 ◽  
Author(s):  
Ann Marie Ruhe ◽  
Imran Qureshi ◽  
David Procaccini
Keyword(s):  
Digeorge Syndrome ◽  
Rare Complication ◽  
22Q11.2 Deletion Syndrome ◽  
Adolescent Male ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Clozapine Therapy ◽  
Chromosomal Disorder ◽  
Congenital Heart Malformations ◽  
Pediatric Populations

Abstract DiGeorge Syndrome (22q11.2 deletion syndrome) is a chromosomal disorder associated with both congenital heart malformations and schizophrenia, which is often treatment-resistant and may warrant treatment with clozapine. Clozapine-induced myocarditis (CIM) is a rare complication of clozapine therapy, with a reported incidence ranging from 0.015% to 3%. Fulminant CIM has a nonspecific presentation in both adult and pediatric populations and a mortality rate approaching 50%. Few cases of pediatric CIM have been documented in the literature. This report highlights a case of CIM in an adolescent male with DiGeorge Syndrome whose clinical course was characterized by a subtle, nonspecific presentation and resolution with supportive care.

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)

1999 ◽  
Vol 86 (1) ◽  
pp. 27-33 ◽  
Author(s):  
Leon McQuade ◽  
John Christodoulou ◽  
Marcia Budarf ◽  
Rani Sachdev ◽  
Meredith Wilson ◽  
...  
Keyword(s):  
Critical Region ◽  
Digeorge Syndrome ◽  
22Q11.2 Deletion

scholarly journals Tremorography in the clinical practice

2020 ◽  
Vol 9 (4) ◽  
pp. 61-72
Author(s):  
T. G. Govorova ◽  
T. E. Popova ◽  
A. A. Tappakhov
Keyword(s):  
Differential Diagnosis ◽  
Clinical Practice ◽  
Movement Disorders ◽  
Clinical Characteristics ◽  
Objective Assessment ◽  
Diagnostic Value ◽  
Common Type ◽  
Routine Practice ◽  
Pathological Tremor

Tremor is the most common type of movement disorders. In practice this differential diagnosis of hyperkinesis is diagnosed clinically and the use of additional methods of objective assessment of tremor increases the accuracy of diagnosis. The use of paraclinical methods of objective assessment of tremor improves the accuracy of diagnosis. Comparison of the neurophysiological parameters of tremor with clinical characteristics has a high diagnostic value, which justifies its use in the routine practice of neurologists. The purpose of the review is to analysis basic electrophysiological characteristics of pathological tremor, as well as the presentation of the material of its own observation.

Congenital Microgastria and Primary Ciliary Dyskinesia in a Newborn with DiGeorge Syndrome and 22q11.2 Deletion

2008 ◽  
Vol 18 (3) ◽  
pp. 195-197 ◽  
Author(s):  
L. Filippi ◽  
L. Serafini ◽  
P. Fiorini ◽  
E. Agostini ◽  
M. Giovannucci Uzielli
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Digeorge Syndrome ◽  
22Q11.2 Deletion ◽  
Ciliary Dyskinesia
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