ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Tamara Žigman ◽  
Katarina Šikić ◽  
Danijela Petković Ramadža ◽  
Johannes Mayr ◽  
Saskia Wortmann ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Liver Failure ◽  
Atp Synthase ◽  
Metabolic Disorders ◽  
Neurological Impairment ◽  
Case Presentation ◽  
Inherited Metabolic Disorders ◽  
Common Causes ◽  
Neonatal Hyperammonemia ◽  
Severe Neurological Impairment

AbstractObjectivesHyperammonemia in a newborn is a serious condition, which requires prompt intervention as it can lead to severe neurological impairment and death if left untreated. The most common causes of hyperammonemia in a newborn are acute liver failure and inherited metabolic disorders. Several mitochondrial disorders have been described as a cause of severe neonatal hyperammonemia.Case presentationHere we describe a new case of adenosine-triphosphate (ATP) synthase deficiency due to m.8528T>C mutation as a novel cause of severe neonatal hyperammonemia. So far six patients with this mutation have been described but none of them was reported to need hemodialysis in the first days of life.ConclusionThis broadens the so far known differential diagnosis of severe neonatal hyperammonemia requiring hemodialysis.

Upper Extremity Anomalies

2019 ◽  
pp. 203-210
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Valproic Acid ◽  
Differential Diagnosis ◽  
Upper Extremity ◽  
Clinical Case ◽  
Background Information ◽  
Amniotic Band ◽  
Case Presentation ◽  
Vascular Disruption ◽  
Common Causes ◽  
Malformation Syndromes

This chapter reviews background information about the incidence, epidemiology, genetics, and other anomalies associated with common congenital anomalies of the upper extremity. The discussion reviews the differential diagnosis of transverse, longitudinal (amelia, radial, ulnar), intercalary (phocomelia), and central (split hand/foot) defects of the radius and ulna and combined upper and lower extremity defects. The chapter summarizes common causes of upper extremity anomalies, including amniotic band disruption sequence, teratogenic agents (misoprostol, thalidomide, valproic acid), vascular disruption, chromosome anomalies, and Mendelian congenital malformation syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with Holt–Oram syndrome.

Polydactyly

2019 ◽  
pp. 217-222
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Differential Diagnosis ◽  
Sex Ratio ◽  
Clinical Case ◽  
Renal Cysts ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Common Causes ◽  
Malformation Syndromes ◽  
Hands And Feet

This chapter reviews background information about the prevalence, sex ratio, genetics, recurrence risk and epidemiology of isolated and syndromic preaxial, postaxial and mesoaxial (central) polydactyly of the hands and feet. Various patterns of isolated and bilateral polydactyly and common associated malfomations (syndactyly, craniosynsostosis, GI anomalies, macrocephaly, mocrpcephaly, renal cysts) are described. The discussion on the differential diagnosis of polydactyly summarizes its common causes, including teratogenic agents, diabetic embryopathy, chromosome anomalies, and congenital malformation syndromes caused by Mendelian traits. It gives recommendations for evaluation and management. A clinical case presentation features an infant with tibial hypoplasia/aplasia with polydactyly (Werner mesomelic syndrome).

scholarly journals Early onset familial relapsing polyneuropathy, mimicking CIDP; A lesson from clinical genetics

2021 ◽  
Vol 62 (4) ◽  
pp. 128-131
Author(s):  
Nebal Wael Saadi
Keyword(s):  
Metabolic Disorders ◽  
Autosomal Recessive ◽  
Diagnostic Methods ◽  
Clinical Genetics ◽  
Case Presentation ◽  
Whole Exome ◽  
Immune Mediated ◽  
Inherited Metabolic Disorders ◽  
Demyelinating Peripheral Neuropathy ◽  
Infancy And Early Childhood

Background: In children, chronic immune-mediated neuropathies present with slowly progressive or relapsing episodes of gait difficulty, symmetric weakness and sometimes paraesthesia. Infancy and early childhood age of presentation and familial recurrence are believed to be atypical features. Case presentation: Herein, we describe two brothers from a non- consanguineous Iraqi family, who presented with episodes of acute immune-mediated demyelinating peripheral neuropathy in early infancy that relapsed recurrently. Mild haemolytic anaemia was also reported. Inherited metabolic disorders were suspected and Whole Exome Sequencing of the youngest brother revealed homozygous frame shift mutation in CD59 gene, confirming the diagnosis of autosomal recessive hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy (HACD59). Conclusion: The report highlights the advantage of genetic testing in such rare and inherited conditions. In the lack of necessary non-traditional diagnostic methods, it is substantial to maintain the accustomed medical practice and strategies, based on available clinical data.

CLINICAL CHALLENGES FOR ANESTHESIOLOGIST FACING PATIENT WITH ACROMEGALY. CASE REPORT

2020 ◽  
Vol 30 (3) ◽  
pp. 56-59
Author(s):  
Jūratė Gudaitytė ◽  
Justina Jermolajevaitė ◽  
Martynas Judickas
Keyword(s):  
Atrial Fibrillation ◽  
Case Report ◽  
General Population ◽  
Metabolic Disorders ◽  
Upper Airway ◽  
Cardiovascular Complications ◽  
Case Presentation ◽  
Increased Risk ◽  
Fluid Regulation ◽  
Class Iv

Background and objectives: Acromegaly is endocri­nal disorder which results in changes involving ge­neral appearance as well as upper airway abnorma­lities, cardiovascular and metabolic disorders which can aggravate the anesthesia and can lead to compli­cations. We aim to discuss the challenges for anesthe­siologist that occurs facing patient with acromegaly and are necessary to investigate before performing any kind of intervention. Case Presentation: 79 years old male patient presen­ted the hospital with recently diagnosed acromegaly for rectal prolapse surgery. From anamnesis he had NYHAIII with cardiomyopathy, atrial fibrillation and arterial hypertension, also multiple old compressive fractures Th10 – L5. He was graded with Mallam­pati score IV and ASA class IV. The complemen­tary examinations were made to assess the possible complications. In induction of general anesthesia the intubation was performed using fibro- bronchoscope and anesthesia went without complications except hypotension which was managed. After surgery the patient was leaded to the postoperative room for furt­her monitoring. Discussion and Conclusion: Acromegalic patients have an increased risk of difficulty during anesthe­sia compared to general population due to difficult intubation, cardiovascular complications , OSA , alte­ration in intraoperative glucose intolerance and fluid regulation. Therefore profound investigation and as­sessment are necessary to predict and prepare for possible difficulties in the surgery room.

Sign in / Sign up

Export Citation Format

Share Document