Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS.

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A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

Child Neurology Open ◽

10.1177/2329048x211006511 ◽

2021 ◽

Vol 8 ◽

pp. 2329048X2110065

Author(s):

Nesrin Şenbil ◽

Zeynep Arslan ◽

Derya Beyza Sayın Kocakap ◽

Yasemin Bilgili

Keyword(s):

Corpus Callosum ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Gene Mutations ◽

Hirschsprung Disease ◽

Agenesis Of Corpus Callosum ◽

Whole Exome ◽

Congenital Cardiac Anomalies ◽

History Of ◽

Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

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MACULAR DETACHMENT IN MORNING GLORY SYNDROME

Ophthalmology Cases & Hypotheses ◽

10.30546/2788-516x.2021.2.1.13 ◽

2021 ◽

Vol Volume 2 (Spring,2021) ◽

pp. 13-17

Author(s):

Ayan Mammadkhanova

Keyword(s):

Optic Nerve ◽

Visual Field ◽

Morning Glory ◽

Macular Detachment ◽

Morning Glory Syndrome ◽

History Of ◽

Ophthalmologic Examination

Purpose:Thepurposeofthisstudyistoreportauniquecaseofmorning glorysyndrome.Methods: This study included ophthalmologic examination, opticalcoherencetomography and areviewoftherelevantliterature.Result: A 7-year-old girl with a history of morning glory syndromewas periodicallyexamined in ourclinic for5 years. Suddenly,shepresentedwiththecomplaintofdecreasedvision.Examinationsrevealed macular detachment. The visual field of the affected eye wassignificantly narrowed. OCT also revealed the presence of a fibrouscord in the centreof the optic nerve, which protruded into the vitreousbody.Discussion:Morningglorysyndromeis anuncommoncongenitaldisordercharacterizedbyawidelyenlargedpapillathatispink-orangeincolour,witha small glial tuft in thecentre. The retinalvessels are arranged radially in relation to the papilla. A pigmentedring surrounds the excavation. The incidence is not well known. Theeffectisgenerallyunilateral.Thissyndromemanifestsasopticatrophy. However, the atrophy does not progress. Visual impairmentsometimes occurs when maculardetachmentarises,as occurred inourpatient.After5yearsofobservation,ourpatient’svisiondramatically worsened as a result of macular detachment. There arevarious theories for the development of macular detachment in MGS:exudative, tractionand rhegmatogenous8.Nobreakwasfound inourpatient,sothecauseofthedetachmentwasmostlikelytheinflammatoryprocess

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Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0646 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Neslihan Doğulu ◽

Ümmühan Öncül ◽

Engin Köse ◽

Zehra Aycan ◽

Fatma Tuba Eminoğlu

Keyword(s):

Diabetic Ketoacidosis ◽

Pyruvate Carboxylase ◽

Laboratory Findings ◽

Case Presentation ◽

First Case ◽

Whole Exome ◽

History Of ◽

Type C ◽

Deficiency Type ◽

Level Analysis

Abstract Objectives Type C pyruvate carboxylase (PC) deficiency is extremely rare, and has been described in only a few patients in literature to date. Herein, we present the case of a four-year-old patient admitted with diabetic ketoacidosis and diagnosed with type C PC deficiency based on clinical and biochemical findings. Case presentation A Turkish girl was referred to the intensive care unit at the age of three-years with a three-day history of vomiting and abdominal pain. Upon physical examination, the patient was found to be experiencing lethargy, dehydration, and Kussmaul breathing. Hyperglycemia, metabolic acidosis, and ketonemia were detected. Clinical and laboratory findings pointed to a prediagnosis of diabetic ketoacidosis. Intravenous fluid, bicarbonate, and insulin treatments were initiated. Elevated alanine and proline levels were recorded in plasma amino acid analysis, while urinary organic acid level analysis revealed increased lactate, pyruvate, 3-OH-butyrate, and acetoacetate levels. Whole exome sequencing revealed homozygous c.584C>T (p.Ala195Val) mutation in the PC gene. Conclusions To date, there have been no reports in literature of type C phenotype patients manifesting with DKA. Our case is the first case with the type C phenotype to be admitted with clinical and laboratory findings of DKA.

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Bilateral Morning Glory Syndrome with Bilateral Persistent Fetal Vasculature in a Patient with Joubert’s Syndrome

Case Reports in Medicine ◽

10.1155/2020/5872758 ◽

2020 ◽

Vol 2020 ◽

pp. 1-5

Author(s):

Ahmad Bilal Araissi ◽

Alaa Fayed ◽

Youssef Helmy

Keyword(s):

Case Report ◽

Optic Disc ◽

Fibrous Tissue ◽

Morning Glory ◽

Persistent Fetal Vasculature ◽

Morning Glory Syndrome ◽

First Case ◽

Ophthalmologic Examination ◽

The Brain ◽

Delayed Growth

Purpose. We report a case of a 1-year-old girl who was referred to us with a cerebellar anomaly and delayed growth and development for bilateral ptosis and poor fixation. Based on our ophthalmologic examination, we concluded that she has bilateral persistent fetal vasculature (PFV) with morning glory syndrome (MGS). A closer look into her neurologic condition revealed that she has Joubert’s syndrome. Observations. External examination revealed bilateral symmetrical ptosis with syndromic facies and her fundus examination revealed a large dysplastic optic disc with anomalous radiating vessels and a fibrous tissue tuft originating from the disc. The left eye showed similar findings in addition to a central excavation and a fibrovascular stalk extending from the optic disc. These findings were consistent with bilateral MGS and bilateral PFV. The brain imaging included a computed tomography scan and magnetic resonance imaging, both of which revealed a “molar tooth appearance” of the midbrain and an anomalous cerebellum suggestive of Joubert’s syndrome. Conclusions and Importance. This is the first case report of a case of bilateral MGS and bilateral PFV associated with Joubert’s syndrome. This case report documents the associated optic nerve disease in these patients, not previously described, which are additive causes of visual compromise in addition to the brain insult.

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Families with neurocutaneous syndromea - Report of two cases

Journal of Dhaka Medical College ◽

10.3329/jdmc.v22i1.15709 ◽

2013 ◽

Vol 22 (1) ◽

pp. 102-107

Author(s):

Radheshyam Saha ◽

Reaz Mahmud ◽

Mohammad Zaid Hossain ◽

Prodip Kumar Sarkar

Keyword(s):

Status Epilepticus ◽

Family History ◽

Tuberous Sclerosis ◽

Autosomal Dominant ◽

Positive Family History ◽

Medical College ◽

First Case ◽

Neurocutaneous Disorder ◽

History Of

CorrigendumThe Article "Families with neurocutaneous syndromea - Report of two Cases" was published in JDMC Vol.22(1) in April 2013. The name of one of the authors was written 'Prodip Kumar Sarker', which is to be read as 'Prodip Kumar Sarkar'. (4th August 2014)Neurocutaneus syndrome is inherited as autosomal dominant condition.Tuberous sclerosis is one of the important neurocutaneous disorder characterized by development of widespread hamartomatous lesions involving skin, brain, kidney, retina etc. Recently we came across two cases of tuberous sclerosis. Both cases presented with status epilepticus and had a positive family history but the first case also had family history of neurofibromatosis. DOI: http://dx.doi.org/10.3329/jdmc.v22i1.15709 J Dhaka Medical College, Vol. 22, No. 1, April, 2013, Page 102-107

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Morning Glory Syndrome: An Unusual Optic Disc Anomaly

IOSR Journal of Dental and Medical Sciences ◽

10.9790/0853-1604044647 ◽

2017 ◽

Vol 16 (04) ◽

pp. 46-47

Author(s):

Dr. Elivia N. Sangma ◽

Dr. Poulomi Das ◽

Dr. Anshuman Gahlot

Keyword(s):

Optic Disc ◽

Morning Glory ◽

Morning Glory Syndrome ◽

Optic Disc Anomaly

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Loeys–Dietz syndrome pathology and aspects of cardiovascular management: A systematic review

Vascular ◽

10.1177/1708538120934582 ◽

2020 ◽

pp. 170853812093458 ◽

Cited By ~ 2

Author(s):

Rizwan Iqbal ◽

Samiha Alom ◽

Jalal BinSaeid ◽

Amer Harky

Keyword(s):

Autosomal Dominant ◽

Genetic Disorder ◽

Aortic Aneurysms ◽

Current Evidence ◽

Medical Subject Headings ◽

Genetic Studies ◽

Mesh Terms ◽

Life Threatening ◽

History Of ◽

Systemic Manifestations

Loeys–Dietz syndrome is an autosomal dominant genetic disorder which is associated with significant and often crucial vascular manifestations. This review is aimed to examine current evidence on pathophysiology and management of Loeys–Dietz syndrome in current era. A comprehensive electronic search was done to identify the articles that discussed all the aspects of Loeys–Dietz syndrome, combined key words and Medical Subject Headings (MeSH) terms were used. Relevant articles have been summarized in each relevant section. Loeys–Dietz syndrome is an autosomal dominant genetic disorder which has combined and multi-systemic manifestations. The increased breakdown of extracellular matrix predisposes an individual to developing aneurysms in the aortic tree which is undoubtedly the most significant complication of this disorder. Understanding the pathophysiology and natural history of Loeys–Dietz syndrome and regular surveillance is important to plan prophylactic interventions to prevent life-threatening aortic emergencies which can be fatal. Loeys–Dietz syndrome is an aggressive genetic condition that predisposes an individual to the development of life-threatening aortic aneurysms. Our understanding of Loeys–Dietz syndrome remains ever-changing and it is likely that the knowledge regarding its diagnosis and treatment will become more clearly defined in the coming years with deeper genetic studies.

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