Tyrosinemia Type I: an unusual case presentation

Introduction. Dentin dysplasia is a rare disturbance of dentin formation characterized by normal enamel but atypical dentin formation with abnormal pulpal morphology that is inherited as an autosomal pulpal morphology.Case Presentation. A 7-year-old female who had problems in chewing function was referred to Oral and Maxillofacial Surgery Department at the Faculty of Dentistry in Ondokuz Mayıs University. In the radiographic examination, it was determined that some of the unerupted permanent teeth of the patient had short, blunted, and malformed roots with obliterated pulp chambers, although the bone below the teeth showed well-defined margins. This unusual case of generalized short roots presents a case demonstrating both classic and atypical features of dentinal dysplasia type I (DDI) in the mixed and permanent dentitions.Conclusion. There are still many issues in the diagnosis and management of patients with dentin dysplasia. Early diagnosis, clinical and radiographic findings, as well as treatment of this condition and the initiation of effective preventive strategies may help prevent or delay loss of dentition.

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Chronic-Onset Hereditary Tyrosinemia Type I

Fetal and Pediatric Pathology ◽

10.3109/15513810109168618 ◽

2001 ◽

Vol 20 (3) ◽

pp. 241-244

Author(s):

John Pohl ◽

Catherine Hughes ◽

Michael Farrell

Keyword(s):

Type I ◽

Tyrosinemia Type I ◽

Hereditary Tyrosinemia

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Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio ◽

10.1515/almed-2021-0018 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Cristina Collazo Abal ◽

Susana Romero Santos ◽

Carmen González Mao ◽

Emilio C. Pazos Lago ◽

Francisco Barros Angueira ◽

...

Keyword(s):

Aldehyde Oxidase ◽

Renal Calculi ◽

Xanthine Dehydrogenase ◽

Type I ◽

Dietary Recommendations ◽

New Mutation ◽

Case Presentation ◽

Hereditary Xanthinuria ◽

Urine Levels ◽

Made In

Abstract Objectives Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II. Case presentation We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging. Additional cases were found in his family and dietary recommendations were made in order to prevent further complications. Conclusions Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.

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Extensive changes in liver gene expression induced by Hereditary Tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC)

Journal of Hepatology ◽

10.1016/s0168-8278(03)00433-1 ◽

2003 ◽

Vol 39 (6) ◽

pp. 901-909 ◽

Cited By ~ 28

Author(s):

Marjanka C Luijerink ◽

Saskia M.M Jacobs ◽

Ellen A.C.M van Beurden ◽

Leander P Koornneef ◽

Leo W.J Klomp ◽

...

Keyword(s):

Gene Expression ◽

Type I ◽

Tyrosinemia Type I ◽

Liver Gene ◽

Hereditary Tyrosinemia

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UNUSUAL CASE PRESENTATION OF NON CYCLIC OBSTRUCTION OF AORTIC DISC PROSTHESIS

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(21)04223-6 ◽

2021 ◽

Vol 77 (18) ◽

pp. 2868

Author(s):

Hakim Irfan Showkat ◽

Sadaf Anwar

Keyword(s):

Unusual Case ◽

Disc Prosthesis ◽

Case Presentation

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Hepatocellular targeted α-tocopherol based pH sensitive galactosylated lipids: design, synthesis and transfection studies

MedChemComm ◽

10.1039/c7md00503b ◽

2018 ◽

Vol 9 (2) ◽

pp. 264-274 ◽

Cited By ~ 5

Author(s):

Venkanna Muripiti ◽

Brijesh Lohchania ◽

Srujan Kumar Marepally ◽

Srilakshmi V. Patri

Keyword(s):

Gene Delivery ◽

Genetic Disorders ◽

Ph Sensitive ◽

Type I ◽

Design Synthesis ◽

Tyrosinemia Type I ◽

Hereditary Tyrosinemia

Receptor mediated gene delivery to the liver offers advantages in treating genetic disorders such as hemophilia and hereditary tyrosinemia type I (HTI).

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Median Nerve Palsy following Elastic Stable Intramedullary Nailing of a Monteggia Fracture: An Unusual Case and Review of the Literature

Case Reports in Medicine ◽

10.1155/2011/682454 ◽

2011 ◽

Vol 2011 ◽

pp. 1-5 ◽

Cited By ~ 2

Author(s):

Surjit Lidder ◽

Nima Heidari ◽

Florian Amerstorfer ◽

Stephan Grechenig ◽

Annelie M. Weinberg

Keyword(s):

Median Nerve ◽

Intramedullary Nailing ◽

Radial Head ◽

Nerve Palsy ◽

Unusual Case ◽

Elastic Stable Intramedullary Nailing ◽

Monteggia Fracture ◽

Type I ◽

Monteggia Lesion ◽

Median Nerve Palsy

Monteggia fractures are rare in children, and subtle radial head dislocations, with minor plastic deformation of the ulna, may be missed in up to a third of cases. Complications of Monteggia fractures-dislocations include persistent radial head dislocation, forearm deformity, elbow stiffness, and nerve palsies at the time of presentation. An unusual case of median nerve palsy following elastic stable intramedullary nailing of a type I Monteggia lesion in a 6-year-old girl is presented, and we highlight that, although most nerve palsies associated with a Monteggia fracture-dislocations are treated expectantly in children, early intervention here probably provided the best outcome.

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563 A Rare Case of Small Bowel Obstruction Secondary to Peritoneal Encapsulation, Congenital Adhesional Band and Gallstone Ileus

British Journal of Surgery ◽

10.1093/bjs/znab259.300 ◽

2021 ◽

Vol 108 (Supplement_6) ◽

Author(s):

P Gungadin ◽

A Taib ◽

M Ahmed ◽

A Sultana

Keyword(s):

Small Bowel ◽

Small Bowel Obstruction ◽

Bowel Obstruction ◽

Unusual Case ◽

Gallstone Ileus ◽

Gall Stone ◽

Case Presentation ◽

Peritoneal Encapsulation ◽

History Of ◽

Gall Stone Ileus

Abstract Introduction Small bowel obstruction can be caused by multiple factors. We describe an unusual case of small bowel obstruction secondary to three rare factors: gallstone ileus, peritoneal encapsulation and congenital adhesional band. Case Presentation A seventy-nine-year-old male presented with a four-day history of obstipation and abdominal pain. CT abdomen pelvis revealed small bowel obstruction secondary to gallstone ileus. The patient was managed by laparotomy. The intraoperative findings revealed the presence of a congenital peritoneal encapsulation with an adhesional band and gallstone proximal to the ileo-caecal valve. Although there was some dusky small bowel, this recovered following the release of the band. Discussion Peritoneal Encapsulation is a rare congenital pathology resulting in the formation of an accessory peritoneal membrane around the small bowel. This condition is asymptomatic and rarely presents as small bowel obstruction. The diagnosis is often made at laparotomy. There are less than 60 cases reported in literature. Gallstone ileus is another rare entity caused by an inflamed gallbladder adhering to part of the bowel resulting in a fistula. Conclusions The rarity of these conditions mean that they are poorly understood. A combination of this triad of gall stone ileus in the presence of peritoneal encapsulation and congenital band has not been reported before. Knowledge of this would raise awareness, facilitate diagnosis and management of patients.

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Cardiac and Respiratory Arrest in a 12-Year-Old Girl with Acute Permethrin Toxicity: A Case Report

10.21203/rs.3.rs-305921/v2 ◽

2021 ◽

Author(s):

Hesam Adin Atashi ◽

Hamid Zaferani Arani ◽

Seyyed Mojtaba Ghorani ◽

Mahya Sadat Teimouri Khorasani ◽

Masoumeh Moalem

Keyword(s):

Case Report ◽

Brain Damage ◽

Respiratory Arrest ◽

Spontaneous Circulation ◽

Type I ◽

Medical Problems ◽

Present Case Report ◽

Case Presentation ◽

Hypoxic Brain Damage ◽

Hypoxic Brain

Abstract Background: Permethrin (PER) is widely employed as the most frequently used type I synthetic pyrethroid insecticide. Despite its worldwide application, reports of pediatric toxicity following permethrin administration are scarce.Case presentation: The present case report involves a 12-year-old Afghan girl, with no previous medical problems, who drank an unknown insecticide covertly at home. Two hours after ingestion, she was taken to the emergency room with neither breathing signs nor a heartbeat. She was immediately transferred to the cardiopulmonary resuscitation (CPR) room, and her spontaneous circulation was returned after a few minutes of CPR. She was then intubated, volume resuscitated with intravenous normal saline, and connected to the mechanical ventilator after being transferred to the ICU ward. The patient remained comatose without spontaneous breathing, her pupils became bilateral mydriasis, and central diabetes insipidus became evident after three days due to apnea and hypoxic brain damage following insecticide ingestion. The chemical analysis of the insecticide bottle showed 10% permethrin without organophosphates, as initially expected. Unfortunately, after seven days, the patient passed away due to resistant hypotension and severe brain damage.Conclusion: Permethrin is widely used globally as an insecticide. However, there are many unmet needs in permethrin toxicity treatment, and the treatment is mainly supportive. Depending on the amount and dose of permethrin, the most common symptoms can vary from headache, dyspnea, and vomiting to metabolic acidosis and cardiac and respiratory arrest, which can lead to hypoxic brain damage and death, as was the outcome in our case.

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