West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature

Objective: To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as de novo West syndrome, i. e., West syndrome that starts after the age of 2 months without other types of seizures (focal seizures for instance) before the onset of epileptic spasms.Methods: We analyzed data from an unpublished cohort of 28 genetically confirmed cases of PDE with antiquitine (ATQ) deficiency and performed a review of the literature looking for description of West syndrome in patients with either PDE with ATQ deficiency or PLP-dependent epilepsy with Pyridox(am)ine phosphate oxidase (PNPO) deficiency.Results: Of the 28 cases from the ATQ deficiency French cohort, 5 had spasms. In four cases, spasms were associated with other types of seizures (myoclonus, focal seizures). In the last case, seizures started on the day of birth. None of these cases corresponded to de novo West syndrome. The review of the literature found only one case of PNPO deficiency presenting as de novo West syndrome and no case of ATQ deficiency.Significance: The presentation of PDE- and PLP-dependent epilepsy as de novo West syndrome is so exceptional that it probably does not justify a systematic trial of pyridoxine or PLP. We propose considering a therapeutic trial with these vitamins in West syndrome if spasms are associated with other seizure types or start before the age of 2 months.

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Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2019-0017 ◽

2019 ◽

Vol 22 (2) ◽

pp. 77-82

Author(s):

J Paprocka ◽

B Rzepka-Migut ◽

N Rzepka ◽

A Jezela-Stanek ◽

E Morava

Keyword(s):

Autosomal Dominant ◽

Clinical Presentation ◽

De Novo ◽

Late Onset ◽

Alexander Disease ◽

Heterozygous Mutation ◽

Type I ◽

Infantile Form ◽

Epileptic Spasms ◽

Electroencephalogram Eeg

AbstractAlexander disease (AxD) is a rare autosomal dominant leukodystrophy with three clinical subtypes: infantile, juvenile and adult. Forms differ by age of symptoms occurrence and the clinical presentation. Although recent data suggest considering only two subtypes: type I (infantile onset with lesions extending to the cerebral hemispheres); type II (adult onset with primary involvement of subtentorial structures). Dominant mutations in the glial fibrillary acidic protein (GFAP) gene in AxD cause dysfunction of astrocytes (a type III intermediate filament). The authors discuss the clinical picture of a boy with infantile form of AxD confirmed by the presence of de novo heterozygous mutation c.236G>A in the GFAP gene and without striking symptoms such as macrocephaly and with exceptional late-onset epileptic spasms with hypsarrhyth- mia on electroencephalogram (EEG).

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Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

Journal of Pediatric Neurology ◽

10.1055/s-0040-1721131 ◽

2020 ◽

Author(s):

Jeetendra P. Sah ◽

Aaron W. Abrams ◽

Geetha Chari ◽

Craig Linden ◽

Yaacov Anziska

Keyword(s):

Spinal Muscular Atrophy ◽

Clinical Characteristics ◽

Clinical Presentation ◽

Muscular Atrophy ◽

Communicating Hydrocephalus ◽

Type I ◽

Review Of The Literature ◽

Radiographic Findings ◽

Comprehensive Review ◽

The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

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FOCAL EPILEPTIC SPASMS INVOLVING ONE LEG EMERGING DURING THE CLINICAL COURSE OF WEST SYNDROME (WS)

Neuropediatrics ◽

10.1055/s-2006-945889 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

K Tanoue ◽

H Oguni ◽

N Nakayama ◽

K Sasaki ◽

Y Ito ◽

...

Keyword(s):

Clinical Course ◽

West Syndrome ◽

Epileptic Spasms

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Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

Case Reports in Dermatology ◽

10.1159/000511370 ◽

2020 ◽

Vol 12 (3) ◽

pp. 231-235

Author(s):

Carl Maximilian Thielmann ◽

Wiebke Sondermann

Keyword(s):

Case Report ◽

Family History ◽

Clinical Presentation ◽

Rare Condition ◽

Unknown Etiology ◽

Review Of The Literature ◽

Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

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Prolonged Survival in Patients with Metastatic HER2-Positive Inflammatory Breast Cancer: A Case Report and Review of the Literature

Case Reports in Oncology ◽

10.1159/000516760 ◽

2021 ◽

pp. 1071-1079

Author(s):

Jennifer Y. Ge ◽

Beth Overmoyer

Keyword(s):

Breast Cancer ◽

Case Report ◽

Inflammatory Breast Cancer ◽

Targeted Therapies ◽

De Novo ◽

Review Of The Literature ◽

Her2 Positive ◽

Rare Type ◽

Favorable Prognosis ◽

Poor Outcomes

Inflammatory breast cancer (IBC) is a rare type of breast cancer that is associated with poor outcomes compared with non-IBC. Overexpression of HER2 is enriched in IBC, and those with HER2-positive disease have a relatively favorable prognosis, with improved survival over the last two decades driven by the advent of novel targeted therapies. Here, we present two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC. We review the data for the treatments available for metastatic HER2-positive IBC and the evolving treatment recommendations for this disease.

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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

Italian Journal of Pediatrics ◽

10.1186/s13052-021-01033-4 ◽

2021 ◽

Vol 47 (1) ◽

Author(s):

Giada Moresco ◽

Jole Costanza ◽

Carlo Santaniello ◽

Ornella Rondinone ◽

Federico Grilli ◽

...

Keyword(s):

Intellectual Disability ◽

Clinical Presentation ◽

De Novo ◽

Clinical Signs ◽

Missense Variant ◽

Psychomotor Development ◽

Helicase Domain ◽

Protein Activity ◽

Mrna Metabolism ◽

Pathogenic Variants

Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs. Case presentation We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG). We identified a novel de novo missense mutation in the DDX3X gene (c.625C > G) by whole exome sequencing (WES). The DDX3X gene encodes a DEAD-box ATP-dependent RNA-helicase broadly implicated in gene expression through regulation of mRNA metabolism. The identified mutation is located just upstream the helicase domain and is suggested to impair the protein activity, thus resulting in the altered translation of DDX3X-dependent mRNAs. The proband, presenting with the typical PMG phenotype related to the syndrome, does not show other clinical signs frequently reported in presence of missense DDX3X mutations that are associated with a most severe clinical presentation. In addition, she has brachycephaly, never described in female DDX3X patients, and macroglossia, that has never been associated with the syndrome. Conclusions This case expands the knowledge of DDX3X pathogenic variants and the associated DDX3X syndrome phenotypic spectrum.

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A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.31519 ◽

2007 ◽

Vol 143A (3) ◽

pp. 265-270 ◽

Cited By ~ 15

Author(s):

Yuri A. Zarate ◽

Jillene M. Kogan ◽

Elizabeth K. Schorry ◽

Teresa A. Smolarek ◽

Robert J. Hopkin

Keyword(s):

Normal Development ◽

De Novo ◽

Review Of The Literature

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A conundrum of West syndrome, behavioural problems and parental expressed emotions: a case report

General Psychiatry ◽

10.1136/gpsych-2019-100111 ◽

2020 ◽

Vol 33 (5) ◽

pp. e100111

Author(s):

Yogender Kumar Malik ◽

Nidhi Chauhan ◽

Akhilesh Sharma ◽

Susanta Padhy

Keyword(s):

Case Report ◽

Early Recognition ◽

West Syndrome ◽

Behavioural Problems ◽

Optimal Outcome ◽

Optimal Care ◽

Epileptic Spasms ◽

Expressed Emotions ◽

Neurodevelopmental Problems ◽

The Ideal

West syndrome (WS) is the most common epileptic syndrome in infancy characterised by epileptic spasms, hypsarrhythmia and neurodevelopmental problems. Epileptic spasms remain in many ways a conundrum, and the ideal intervention, as well as how to screen patients to provide optimal care and certainly its genetic cause, remains puzzling. It is important to screen infants for early recognition and intervention to achieve the optimal outcome. We hereby discuss the approach to management of a boy aged 4½ years old with WS and behavioural problems and of parental expressed emotions.

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Paraspinal gossybipoma: A case report and review of the literature

Journal of Neurosciences in Rural Practice ◽

10.4103/0976-3147.71725 ◽

2010 ◽

Vol 01 (02) ◽

pp. 102-104 ◽

Cited By ~ 11

Author(s):

Baris Kucukyuruk ◽

Huseyin Biceroglu ◽

Bashar Abuzayed ◽

Mustafa O Ulu ◽

Ali M Kafadar

Keyword(s):

Clinical Presentation ◽

Review Of The Literature ◽

Disk Herniation ◽

Serous Fluid ◽

Lumbar Disk Herniation ◽

Radiologic Findings ◽

Initial Surgery ◽

History Of ◽

Retained Surgical Sponges ◽

Operation Wound

ABSTRACTSpinal or paraspinal retained surgical sponges (gossybipoma or textiloma) are rare incidents and mostly asymptomatic in chronic cases, but can be confused with other masses such as a hematoma, an abscess or a tumor. In chronic cases, the presentation can be as late as decades after the initial surgery; however, some gossybipomas cause infection or abscess formation in the early stages. The authors report a 40-year-old woman with a history of operation for lumbar disk herniation before 8 months, and got admitted with a complaint of serous fluid leakage from the operation wound. In this report, the authors discuss the clinical presentation, the radiologic findings and the differential diagnosis of gossybipoma.

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