scholarly journals A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Julie R. Whittington ◽  
Aaron T. Poole ◽  
Eryn H. Dutta ◽  
Mary B. Munn
Keyword(s):  
Novel Mutation ◽  
Oral Intake ◽  
Pregnant Patient ◽  
Intestinal Pseudoobstruction ◽  
Chronic Intestinal Pseudoobstruction ◽  
Visceral Myopathy ◽  
First Case ◽  
Mother And Child ◽  
History Of ◽  
Hypoperistalsis Syndrome

Background. A novel mutation in the ACTG2 gene is described in a pregnant patient followed up for chronic intestinal pseudoobstruction (CIPO) during pregnancy and her fetus with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Case. 24-year-old gravida 1 para 1 with CIPO and persistent nausea and vomiting in pregnancy, admitted at 28 weeks of gestation. Ultrasound revealed a fetus measuring greater than the 95th percentile, polyhydramnios, and megacystis. At delivery, the newborn was noted to have an enlarged bladder, microcolon, and intolerance of oral intake. Genetic testing of mother and child revealed a novel mutation in the ACTG2 gene (C632F>A, p.R211Q). Conclusion. This is the first case in the literature describing a novel mutation in ACTG2 associated with visceral myopathy affecting both mother and fetus/neonate. Visceral myopathy should be included in the differential diagnosis of megacystis diagnosed by ultrasound, and suspicion should increase with family history of CIPO or MMIHS.

scholarly journals ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation

2018 ◽  
Vol 27 (1) ◽  
pp. 77-83 ◽  
Author(s):  
Rebecca R. J. Collins ◽  
Bradley Barth ◽  
Stephen Megison ◽  
Cory M. Pfeifer ◽  
Luke M. Rice ◽  
...  
Keyword(s):  
Choledochal Cyst ◽  
Pyloric Stenosis ◽  
Late Onset ◽  
Smooth Muscle Actin ◽  
Hypertrophic Pyloric Stenosis ◽  
Pathogenic Mutation ◽  
Intestinal Malrotation ◽  
Intestinal Pseudoobstruction ◽  
Chronic Intestinal Pseudoobstruction ◽  
Visceral Myopathy

Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 ( ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2-associated visceral myopathy.

Varicella zoster meningitis in a pregnant woman with uncontrolled type 1 diabetes mellitus

2021 ◽  
Vol 14 (2) ◽  
pp. e236644
Author(s):  
Laura Mroue ◽  
Harpreet Brar ◽  
Bernard Gonik
Keyword(s):  
Medical Literature ◽  
Pregnant Patient ◽  
Cerebrospinal Fluid Analysis ◽  
Neck Stiffness ◽  
Varicella Zoster ◽  
Fluid Analysis ◽  
First Case ◽  
The Us ◽  
History Of

We report the case of retrograde varicella zoster virus (VZV) reactivation presenting as aseptic meningitis without rash in a generally healthy pregnant patient. A 27-year-old nulliparous woman at 25 weeks of gestation presented to the emergency department with a 1-day history of severe headache associated with nausea, photophobia and neck stiffness. After ruling out a space-occupying lesion by brain imaging, lumbar puncture was performed. Cerebrospinal fluid analysis by PCR revealed the presence of VZV, making the diagnosis of acute varicella meningitis. The patient had immunoglobulin studies consistent with a history of primary VZV infection, thus confirming reactivation of VZV rather than primary infection. The patient was treated with acyclovir for 14 days and recovered fully. Her neonate was delivered full term without any evidence of vertical transmission. This is only the second reported case of VZV meningitis in a pregnant patient in the medical literature, and the first case in the US that was reported.

Chronic intestinal pseudoobstruction due to visceral myopathy

2007 ◽  
Vol 148 (28) ◽  
pp. 1329-1334
Author(s):  
Márta Kovács ◽  
Gábor Veres ◽  
László Szőnyi ◽  
Antal Dezsőfi ◽  
Hedvig Bodánszky ◽  
...  
Keyword(s):  
Intestinal Pseudoobstruction ◽  
Chronic Intestinal Pseudoobstruction ◽  
Visceral Myopathy ◽  
Grand Mal

A szerzők egy 6 éves gyermeknél jelentkező, letális kimenetelű chronicus intestinalis pseudoobstructio (CIPO) esetét ismertetik. A klinikai tünetek és a képalkotó vizsgálatok ileus képét mutatták mechanikus elzáródás nélkül. Az ápolás során neurológiai tünetek alakultak ki, bal oldali mydriasis, majd grand mal görcsroham laktát-acidosis mellett. A konzervatív kezelés teljes parenterális táplálást, folyadék-elektrolit pótlást, erythromycin és szomatosztatin adását, acidosis korrekciót foglalt magában. A beteg halálát a 48. ápolási napon hirtelen fellépő keringési elégtelenség, szívmegállás okozta. A tisztázatlan eredetű gastrointestinalis és neurológiai tünetek, laktátacidosis alapján mitochondriális myopathia lehetősége merült fel a kórkép hátterében. A postmortem hisztopatológiai vizsgálat viscerális myopathiát bizonyított. A molekuláris genetikai vizsgálatok mitochondriális DNS-mutációt nem igazoltak.

Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Barbara Markota ◽  
Anna Maria Gross ◽  
Christian Specht ◽  
Caroline Schertler ◽  
Melissa Rhomberg ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Surgical Treatment ◽  
Diagnostic Criteria ◽  
Antenatal Diagnosis ◽  
Congenital Disorder ◽  
Intestinal Pseudoobstruction ◽  
Chronic Intestinal Pseudoobstruction ◽  
Rare Congenital Disorder ◽  
Hypoperistalsis Syndrome

AbstractMegacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder, acknowledged as the most debilitating form of chronic intestinal pseudoobstruction disorders. Because the disease is often fatal in the first years of life and the surviving individuals are dependent on supportive medical or surgical treatment, definite antenatal diagnosis is desirable. We report a case of prenatally diagnosed MMIHS and discuss the suspicious findings and diagnostic criteria that allow a rapid and definite prenatal diagnosis.

scholarly journals Molar Incisor Hypomineralization (MIH) in a Child with Congenital Chronic Intestinal Pseudoobstruction (CIPO)

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Mohammed Zameer ◽  
Syed Ali Peeran ◽  
Syed Nahid Basheer ◽  
Syed Wali Peeran ◽  
Sameen Badiujjama Birajdar ◽  
...  
Keyword(s):  
Treatment Options ◽  
Mitochondrial Disorder ◽  
Intestinal Pseudoobstruction ◽  
Present Case Report ◽  
Enamel Defect ◽  
Chronic Intestinal Pseudoobstruction ◽  
First Case ◽  
Molar Incisor Hypomineralization ◽  
Exact Etiology

Molar incisor hypomineralization (MIH) is a qualitative enamel defect of systemic origin affecting 1–4 permanent first molars (PFMs) frequently in association with affected permanent incisors (PIs). The exact etiology of MIH is still unclear but considered to be multifactorial. This present case report to the best of our knowledge is the first case reported which acknowledges MIH in a patient with chronic intestinal pseudoobstruction (CIPO) with underlying neurological disease due to somatic mitochondrial disorder. It also elicits the availability of various contemporary treatment options and their proper selection and early intervention to manage the functional and aesthetic problems caused by enamel defects and to improve the quality of life in the patients.

Chronic intestinal pseudoobstruction syndrome

1992 ◽  
Vol 28 (2) ◽  
pp. 287
Author(s):  
Kyung Mo Yeon ◽  
Jeong Kee Seo ◽  
Yong Seok Lee
Keyword(s):  
Intestinal Pseudoobstruction ◽  
Chronic Intestinal Pseudoobstruction

Case Report: Management of a Patient with mTBI and Vestibular Hypofunction with the Binasal Occlusion Technique

2018 ◽  
pp. 87-90
Keyword(s):  
Case Report ◽  
Visual Motion ◽  
Hand Movement ◽  
Motion Sensitivity ◽  
Vestibular Hypofunction ◽  
First Case ◽  
Neurological Exam ◽  
History Of ◽  
Occlusion Technique ◽  
Visual Vertigo

Background: Binasal Occlusion (BNO) is a clinical technique used by many neurorehabilitative optometrists in patients with mild traumatic brain injury (mTBI) and increased visual motion sensitivity (VMS) or visual vertigo. BNO is a technique in which partial occluders are added to the spectacle lenses to suppress the abnormal peripheral visual motion information. This technique helps in reducing VMS symptoms (i.e., nausea, dizziness, balance difficulty, visual confusion). Case Report: A 44-year-old AA female presented for a routine eye exam with a history of mTBI approximately 33 years ago. She was suffering from severe dizziness for the last two years that was adversely impacting her ADLs. The dizziness occurred in all body positions and all environments throughout the day. She was diagnosed with vestibular hypofunction and had undergone vestibular therapy but reported little improvement. Neurological exam revealed dizziness with both OKN drum and hand movement, especially in the left visual field. BNO technique resulted in immediate relief of her dizziness symptoms. Conclusion: To our knowledge, this is the first case that illustrates how the BNO technique in isolation can be beneficial for patients with mTBI and vestibular hypofunction. It demonstrates the success that BNO has in filtering abnormal peripheral visual motion in these patients.

Scales and Units

2018 ◽  
Author(s):  
Kathryn M. de Luna
Keyword(s):  
Language Change ◽  
Historical Linguistics ◽  
Bantu Languages ◽  
The North ◽  
First Case ◽  
Linguistic Evidence ◽  
River Region ◽  
History Of ◽  
Alternative Approaches

This chapter uses two case studies to explore how historians study language movement and change through comparative historical linguistics. The first case study stands as a short chapter in the larger history of the expansion of Bantu languages across eastern, central, and southern Africa. It focuses on the expansion of proto-Kafue, ca. 950–1250, from a linguistic homeland in the middle Kafue River region to lands beyond the Lukanga swamps to the north and the Zambezi River to the south. This expansion was made possible by a dramatic reconfiguration of ties of kinship. The second case study explores linguistic evidence for ridicule along the Lozi-Botatwe frontier in the mid- to late 19th century. Significantly, the units and scales of language movement and change in precolonial periods rendered visible through comparative historical linguistics bring to our attention alternative approaches to language change and movement in contemporary Africa.

Sign in / Sign up

Export Citation Format

Share Document