scholarly journals Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller–Dieker Syndrome

2017 ◽  
Vol 07 (02) ◽  
pp. 086-091
Author(s):  
Omar Shoukfeh ◽  
Leonard Prouty ◽  
John Hinrichsen ◽  
William Spencer ◽  
Marlyn Langford ◽  
...  
Keyword(s):  
Case Report ◽  
Retinopathy Of Prematurity ◽  
Molecular Testing ◽  
Ocular Abnormalities ◽  
Ophthalmic Examination

AbstractA complete ophthalmic examination is not routinely performed on infants with Miller–Dieker syndrome (MDS, chromosome 17p13.3 microdeletion). The authors present the cases of four cousins with MDS who also carried a 16p13.3 microduplication (not associated with Rubinstein–Taybi syndrome). Retinopathy of prematurity-like proliferative peripheral retinopathy (PPR) was detected in two male first cousins, but was not detected in the female half-cousins. PPR in the first infant resolved by 4 months, but the second infant's PPR progressed, requiring photocoagulation followed by lens-sparing vitrectomy. While ocular abnormalities are more prevalent and severe in other lissencephalopathies, the PPR in these MDS infants underscores the sight-saving potential of performing an ophthalmologic exam with early molecular testing for all lissencephaly infants.

Ocular abnormalities in a patient with partial deletion of chromosome 6p: A case report

1997 ◽  
Vol 18 (3) ◽  
pp. 151-156 ◽  
Author(s):  
L. M. Walsh ◽  
S. A. Lynch ◽  
M. P. Clarke
Keyword(s):  
Case Report ◽  
Partial Deletion ◽  
Ocular Abnormalities ◽  
Chromosome 6P

scholarly journals Primary Empty Sella Syndrome: A Case Report

1970 ◽  
Vol 1 (1) ◽  
pp. 23-25
Author(s):  
Md Sanwar Hossain ◽  
Mahbuba Ashrafi Mumu ◽  
Md Moyenuddin PK
Keyword(s):  
Case Report ◽  
Pituitary Gland ◽  
Subarachnoid Space ◽  
Empty Sella ◽  
Multiple Pregnancies ◽  
Empty Sella Syndrome ◽  
Ocular Abnormalities ◽  
Medical College ◽  
Persistent Headache ◽  
Primary Empty Sella

Primary Empty Sella Syndrome (PES) is a relatively rare or uncommon developmental disease that develops spontaneously. It is characterized by herniation of subarachnoid space within the sella which is often associated with some degree of flattening of pituitary gland. Usually manifested by endocrine abnormalities, ocular abnormalities, rhinitis and intractable persistent headache. It is higher in obese females having multiple pregnancies. Here we report a case of empty sella syndrome in a 27 year old lady to aware the physicians to bear in mind a differential in patients having persistent intractable headache. Key words: Empty Sella Syndrome; Woman; Obesity; Intractable Headache DOI: 10.3329/akmmcj.v1i1.7456 Anwer Khan Modern Medical College Journal 2010; 1(1): 23-25

scholarly journals MDS with 5q deletion and rare cKIT positive mastocytosis: a diagnostic and therapeutic challenge

2019 ◽  
Vol 12 (4) ◽  
pp. e227768
Author(s):  
Daniel Steven Sanders ◽  
Thomas Fennell ◽  
Mohammad Muhsin Chisti
Keyword(s):  
Bone Marrow ◽  
Mast Cell ◽  
Case Report ◽  
Systemic Mastocytosis ◽  
Molecular Testing ◽  
Bone Marrow Biopsies ◽  
Haematological Response ◽  
Clonal Origin ◽  
Mast Cell Population ◽  
5Q Deletion

A patient with a diagnosis of myelodysplastic syndrome (MDS) with isolated 5q deletion underwent repeat bone marrow biopsy to assess haematological response after 6 months of initial lenalidomide therapy. Subsequent bone marrow biopsies revealed persistent MDS with del(5q) in addition to a small atypical mast cell population with >25% of mast cells with spindle-shaped morphology and immunohistochemistry characteristics consistent with mastocytosis. Molecular testing on the bone marrow was positive for cKIT D816V and the patient was diagnosed with systemic mastocytosis (SM) with an associated haematological neoplasm. MDS with SM is well known to be associated; however, to the best of our knowledge, only one prior case report identifies MDS with del(5q) and associated cKIT D816V positive mastocytosis. While the exact clonal origin of both chromosomal aberrations is unclear, this case illustrates the therapeutic efficacy of lenalidomide in a patient with MDS with del(5q) and rarely associated cKIT positive SM.

scholarly journals A Case Report to Assess Passive Immunity in a COVID Positive Pregnant Patient

2020 ◽  
Vol 37 (12) ◽  
pp. 1280-1282
Author(s):  
Lorraine E. Toner ◽  
Shari E. Gelber ◽  
Juan A. Pena ◽  
Nathan S. Fox ◽  
Andrei Rebarber
Keyword(s):  
Case Report ◽  
Cord Blood ◽  
Pregnant Patient ◽  
Passive Immunity ◽  
Molecular Testing ◽  
Transplacental Passage ◽  
Blood Samples ◽  
Key Points ◽  
Fetal Cord Blood ◽  
Red Blood Cell Isoimmunization

Introduction Data regarding transplacental passage of maternal coronavirus disease 2019 (COVID-19) antibodies and potential immunity in the newborn is limited. Case Report We present a 25-year-old multigravida with known red blood cell isoimmunization, who was found to be COVID-19 positive at 27 weeks of gestation while undergoing serial periumbilical blood sampling and intrauterine transfusions. Maternal COVID-19 antibody was detected 2 weeks after positive molecular testing. Antibodies were never detected on cord blood samples from two intrauterine fetal cord blood samples as well as neonatal cord blood at the time of delivery. Conclusion This case demonstrates a lack of passive immunity of COVID-19 antibodies from a positive pregnant woman to her fetus, neither in utero nor at the time of birth. Further studies are needed to understand if passage of antibodies can occur and if that can confer passive immunity in the newborn. Key Points

scholarly journals X-Linked Retinoschisis and a Coats-Like Response in the Setting of Retinopathy of Prematurity

2020 ◽  
Vol 4 (6) ◽  
pp. 525-529
Author(s):  
Kenneth C. Fan ◽  
Mark A. McAllister ◽  
Nicolas A. Yannuzzi ◽  
Nimesh A. Patel ◽  
Supalert Prakhunhungsit ◽  
...  
Keyword(s):  
Case Report ◽  
Young Patient ◽  
Retinopathy Of Prematurity ◽  
Laser Photocoagulation ◽  
Imaging Findings ◽  
Unique Combination ◽  
Unique Case ◽  
Anti Vegf ◽  
History Of

Purpose: This case report describes a unique case of a young patient with retinopathy of prematurity (ROP), a unilateral Coats-like response, and X-linked retinoschisis (XLRS). Methods: A 9-year-old boy with a history of regressed ROP presented with a unilateral Coats-like response, subretinal exudation, and XLRS. Examination and imaging findings demonstrated a highly unique combination of bilateral retinoschisis and a dramatic unilateral Coats-like response with a large schisis cavity. Results: Treatment with laser photocoagulation and anti-VEGF therapy led to resolution of the subretinal exudative changes. Conclusions: This is the first published description to our knowledge of a patient with a Coats-like response, XLRS, and a history of regressed ROP with resolution after treatment.

scholarly journals STAGE 5 RETINOPATHY OF PREMATURITY IN ONE EYE – CASE REPORT

2012 ◽  
pp. 37-41
Author(s):  
Gordana Stanković-Babić ◽  
Ana Oros ◽  
Milena Vujanović ◽  
Sonja Cekić
Keyword(s):  
Case Report ◽  
Retinopathy Of Prematurity

scholarly journals A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report

2019 ◽  
Vol 19 (2) ◽  
pp. 153 ◽  
Author(s):  
Abeer Al-Battashi ◽  
Zahra Al Hajri ◽  
Arie Perry ◽  
Hunaina Al-Kindi ◽  
Ibrahim Al-Ghaithi
Keyword(s):  
Central Nervous System ◽  
Case Report ◽  
High Dose Chemotherapy ◽  
High Dose ◽  
Molecular Testing ◽  
High Grade ◽  
Embryonal Tumors ◽  
Royal Hospital ◽  
Embryonal Tumours ◽  
Neuroepithelial Tumours

ABSTRACT: New groups of high-grade neuroepithelial tumours (HGNET) have emerged from the reclassification of central nervous system (CNS) embryonal tumours that have recognised CNS HGNET with BCOR alteration (CNS HGNET-BCOR). We report a two-year, nine-month-old Omani boy who presented to the Royal Hospital, Muscat, Oman, in 2015 with subacute head tilting and neck pain. A well-defined cerebellar lesion was found and he was treated with standard chemoradiotherapy. After a relapse at the age of five years, molecular testing revealed a BCOR alteration. He was treated with further surgery and high-dose chemotherapy; unfortunately, he relapsed and died three years after he was diagnosed.Keywords: Neuroepithelial Tumor; Glioblastoma; Human BCOR Protein; Embryonal Tumors; Case Report; Oman.

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