Three Generations of FLNA-Associated Periventricular Nodular Heterotopia

Case Reports in Neurology ◽

10.1159/000519507 ◽

2021 ◽

pp. 777-781

Author(s):

Grace E. Eisenbiegler ◽

Stephen A. Brown

Keyword(s):

Genetic Counseling ◽

Phenotypic Variability ◽

Maternal Grandmother ◽

Single Family ◽

Periventricular Nodular Heterotopia ◽

Fetal Imaging ◽

Fetal Malformations ◽

Nodular Heterotopia ◽

History Of

We present a family with 3 generations of FLNA gene-associated periventricular nodular heterotopia (PVNH), with a unique presentation in a fetus with multiple neurologic malformations. Neurologic abnormalities were noted on routine fetal imaging for a 33-year-old G1P0 woman; absence of the corpus callosum and PVNH was confirmed on follow-up MRI. This prompted genetic evaluation, revealing a nonsense mutation in the FLNA gene. Familial genetic analysis and neuroimaging revealed the same variant and MRI evidence of PVNH in the fetus’s asymptomatic mother, and maternal grandmother, who had a long history of seizure disorder. Such phenotypic variability within a single family demonstrates the spectrum of PVNH and the importance of genetic counseling for patients with PVNH. This case also adds to existing literature on the rare but not unique presentation of FLNA-associated fetal malformations.

Download Full-text

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR

10.1101/2020.12.02.20242719 ◽

2020 ◽

Author(s):

Keith Nykamp ◽

Rebecca Truty ◽

Darlene Riethmaier ◽

Julia Wilkinson ◽

Sara L. Bristow ◽

...

Keyword(s):

Genetic Counseling ◽

Family History ◽

Hereditary Cancer ◽

Phenotypic Variability ◽

Clinical Information ◽

History Of ◽

Disease Risks ◽

Reduced Penetrance ◽

The Individual ◽

Single Organ

ABSTRACTPurposeTo evaluate the risk and spectrum of phenotypes associated in individuals with one or two of the CFTR T5 haplotype variants (TG11T5, TG12T5 and TG13T5) in the absence of the R117H variant.MethodsIndividuals who received testing with CFTR NGS results between 2014 and 2019 through Invitae at ordering provider discretion were included. TG-T repeats were detected using a custom-developed haplotype caller. Frequencies of the TG-T5 variants (biallelic or in combination with another CF-causing variant [CFvar]) were calculated. Clinical information reported by the ordering provider (via requisition form) or the individual (during genetic counseling appointments) was examined.ResultsAmong 548,300 individuals, the minor allele frequency of the T5 allele was 4.2% (TG repeat distribution: TG11=68.1%, TG12=29.5%, TG13=2.4%). When present with a CFvar, each of the TG[11-13]T5 variants were significantly enriched in individuals with a “high suspicion” of CF/CFTR-RD (personal/family history of CF/CFTR-RD) compared to those with very “low suspicion” for CF or CFTR-RD (hereditary cancer testing, CFTR not requisitioned). Compared to CFvar/CFvar individuals, TG[11-13]T5/CFvar individuals generally had single organ involvement, milder symptoms, variable expressivity, and reduced penetrance.DiscussionData from this study provides a better understanding of disease risks associated with inheriting TG[11-13]T5 variants and has important implications for reproductive genetic counseling.

Download Full-text

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

European Journal of Ophthalmology ◽

10.1177/11206721211004396 ◽

2021 ◽

pp. 112067212110043

Author(s):

Yousra Falfoul ◽

Khaled EL Matri ◽

Imen Habibi ◽

Safa Halouani ◽

Ahmed Chebil ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Choroidal Neovascularization ◽

Multimodal Imaging ◽

Phenotypic Variability ◽

Pathogenic Variant ◽

Exon 2 ◽

Acute Visual Loss ◽

Missense Variation ◽

History Of

Purpose: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pigmentosa (RP) linked to PRPH2 pathogenic variant, with follow-up and management of both eyes. Methods: Observational case report. Results: A 40-year-old female with history of autosomal dominant RP consulted for acute visual loss in her right eye (RE). Multimodal imaging including OCT-A confirmed the diagnosis of active type 2 CNV in the RE and highlighted an incidental asymptomatic non-exudative “quiescent” CNV in the left eye (LE). This complication was managed by intra-vitreal Bevacizumab injections in the RE and regular monitoring of the LE. Frequent follow-up could detect early CNV activation signs in LE allowing early treatment. Mutation analysis of PRPH2 exons identified a known heterozygous pathogenic missense variation c.646C>T, p.P216S in exon 2. Conclusion: Multimodal imaging and especially OCT-A can be of a great help in the diagnosis and the management of CNV complicating RP, even at the stage of quiescent CNV. In presence of neovascular complication, PRPH2 gene should be investigated because of its frequent macular involvement despite high phenotypic variability.

Download Full-text

Detection of a novel c.7106_7110delinsT heterozygous mutation in the FLNA gene in an asymptomatic mother with periventricular nodular heterotopia during prenatal genetic counseling

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2016.08.005 ◽

2016 ◽

Vol 55 (6) ◽

pp. 897-899 ◽

Cited By ~ 1

Author(s):

Chih-Ping Chen ◽

Schu-Rern Chern ◽

Nan-Chang Chiu ◽

Yu-Peng Liu ◽

Yen-Ni Chen ◽

...

Keyword(s):

Genetic Counseling ◽

Heterozygous Mutation ◽

Prenatal Genetic Counseling ◽

Periventricular Nodular Heterotopia ◽

Nodular Heterotopia

Download Full-text

Bipolar disorder with Melnick–Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature

Journal of Medical Case Reports ◽

10.1186/s13256-021-03064-1 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Maria Pia Riccio ◽

Giuseppe D’Andrea ◽

Emilia Sarnataro ◽

Maria Marino ◽

Carmela Bravaccio ◽

...

Keyword(s):

Bipolar Disorder ◽

Case Reports ◽

Phenotypic Variability ◽

Actin Binding ◽

Psychiatric Disease ◽

Filamin A ◽

Review Of The Literature ◽

Periventricular Nodular Heterotopia ◽

First Report ◽

Nodular Heterotopia

Abstract Background Melnick–Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick–Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A. Defects of the human Filamin-A gene also cause X-linked periventricular nodular heterotopia, a malformation of neuronal migration characterized by nodules of neurons in inappropriate location adjacent to the walls of the lateral ventricles. Case presentation We report on two Caucasian adolescent females, sisters, diagnosed with Melnick–Needles syndrome and bilateral periventricular nodular heterotopia, who developed bipolar disorder and somatic symptoms disorder at a young age. We also present a review of the literature about mental disorders associated with periventricular nodular heterotopia. Our report shows that patients presenting with atypical and heterogeneous psychiatric disease may have an underrecognized anatomical brain abnormality on genetic basis. Conclusions We found records of psychiatric disorders associated with periventricular nodular heterotopia; nevertheless, this is the first report of bipolar disorder occurring in individuals with periventricular nodular heterotopia, and the first report of any psychiatric disorder in individuals affected by Melnick–Needles syndrome. In conclusion, this case report may contribute to characterizing the phenotype of this very rare syndrome.

Download Full-text

Natural history of helicobacter pylori infection from infancy to adulthood: A 21-year follow-up cohort study

Gastroenterology ◽

10.1016/s0016-5085(01)80628-4 ◽

2001 ◽

Vol 120 (5) ◽

pp. A128-A128 ◽

Cited By ~ 1

Author(s):

H MALATY ◽

D GRAHAM ◽

A ELKASABANY ◽

S REDDY ◽

S SRINIVASAN ◽

...

Keyword(s):

Helicobacter Pylori ◽

Cohort Study ◽

Natural History ◽

Helicobacter Pylori Infection ◽

History Of

Download Full-text

Treatment of varicose tributaries with sclerotherapy with polidocanol 0.5 % foam

VASA ◽

10.1024/0301-1526/a000023 ◽

2010 ◽

Vol 39 (2) ◽

pp. 169-174 ◽

Cited By ~ 7

Author(s):

Reich-Schupke ◽

Weyer ◽

Altmeyer ◽

Stücker

Keyword(s):

Scientific Evidence ◽

Daily Practice ◽

Severe Adverse Effect ◽

Safe Procedure ◽

Efficacy And Safety ◽

Foam Sclerotherapy ◽

History Of ◽

One Year ◽

Additional Therapy

Background: Although foam sclerotherapy of varicose tributaries is common in daily practice, scientific evidence for the optimal sclerosant-concentration and session-frequency is still low. This study aimed to increase the knowledge on foam sclerotherapy of varicose tributaries and to evaluate the efficacy and safety of foam sclerotherapy with 0.5 % polidocanol in tributaries with 3-6 mm in diameter. Patients and methods: Analysis of 110 legs in 76 patients. Injections were given every second or third day. A maximum of 1 injection / leg and a volume of 2ml / injection were administered per session. Controls were performed approximately 6 months and 12 months after the start of therapy. Results: 110 legs (CEAP C2-C4) were followed up for a period of 14.2 ± 4.2 months. Reflux was eliminated after 3.4 ± 2.7 injections per leg. Insufficient tributaries were detected in 23.2 % after 6.2 ± 0.9 months and in 48.2 % after 14.2 ± 4.2 months, respectively. Only 30.9 % (34 / 110) of the legs required additional therapy. In 6.4 % vein surgery was performed, in 24.5 % similar sclerotherapy was repeated. Significantly fewer sclerotherapy-sessions were required compared to the initial treatment (mean: 2.3 ± 1.4, p = 0.0054). During the whole study period thrombophlebitis (8.2 %), hyperpigmentation (14.5 %), induration in the treated region (9.1 %), pain in the treated leg (7.3 %) and migraine (0.9 %) occurred. One patient with a history of thrombosis developed thrombosis of a muscle vein (0.9 %). After one year there were just hyperpigmentation (8.2 %) and induration (1.8 %) left. No severe adverse effect occurred. Conclusions: Foam sclerotherapy with injections of 0.5 % polidocanol every 2nd or 3rd day, is a safe procedure for varicose tributaries. The evaluation of efficacy is difficult, as it can hardly be said whether the detected tributaries in the controls are recurrent veins or have recently developed in the follow-up period. The low number of retreated legs indicates a high efficacy and satisfaction of the patients.

Download Full-text

Pneumomediastinum: A Rare Presentation of Inflicted Injuries in Infants

Journal of Pediatric Intensive Care ◽

10.1055/s-0040-1716857 ◽

2020 ◽

Author(s):

Adam Lee ◽

Adam Bajinting ◽

Abby Lunneen ◽

Colleen M. Fitzpatrick ◽

Gustavo A. Villalona

Keyword(s):

Literature Review ◽

Retrospective Review ◽

Review Of The Literature ◽

Rare Presentation ◽

Spontaneous Pneumomediastinum ◽

Nonaccidental Trauma ◽

Comprehensive Literature Review ◽

Healthy Infants ◽

History Of

AbstractReports of incidental pneumomediastinum in infants secondary to inflicted trauma are limited. A retrospective review of infants with pneumomediastinum and history of inflicted trauma was performed. A comprehensive literature review was performed. Three infants presented with pneumomediastinum associated with inflicted trauma. Mean age was 4.6 weeks. All patients underwent diagnostic studies, as well as a standardized evaluation for nonaccidental trauma. All patients with pneumomediastinum were resolved at follow-up. Review of the literature identified other cases with similar presentations with related oropharyngeal injuries. Spontaneous pneumomediastinum in previously healthy infants may be associated with inflicted injuries. Clinicians should be aware of the possibility of an oropharyngeal perforation related to this presentation.

Download Full-text

Lingual Dystonia Treated with Botulinum Toxin - A Case Report

Journal of Bangladesh College of Physicians and Surgeons ◽

10.3329/jbcps.v24i2.152 ◽

1970 ◽

Vol 24 (2) ◽

pp. 75-78

Author(s):

MA Hayee ◽

QD Mohammad ◽

H Rahman ◽

M Hakim ◽

SM Kibria

Keyword(s):

Botulinum Toxin ◽

Botulinum Toxin A ◽

Botulinum Toxin Type A ◽

Botulinum Toxin Type ◽

X Ray ◽

Medical College ◽

Lingual Dystonia ◽

History Of ◽

Chest X Ray

A 42-year-old female presented in Neurology Department of Sir Salimullah Medical College with gradually worsening difficulty in talking and eating for the last four months. Examination revealed dystonic tongue, macerated lips due to continuous drooling of saliva and aspirated lungs. She had no history of taking antiparkinsonian, neuroleptics or any other drugs causing dystonia. Chest X-ray revealed aspiration pneumonia corrected later by antibiotics. She was treated with botulinum toxin type-A. Twenty units of toxin was injected in six sites of the tongue. The dystonic tongue became normal by 24 hours. Subsequent 16 weeks follow up showed very good result and the patient now can talk and eat normally. (J Bangladesh Coll Phys Surg 2006; 24: 75-78)

Download Full-text