scholarly journals Pycnodysostosis with Special Emphasis on Dentofacial Characteristics

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Aisha Khoja ◽  
Mubassar Fida ◽  
Attiya Shaikh
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Bone Turnover ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Great Emphasis ◽  
Treatment Goals ◽  
Oral Complications ◽  
Characteristic Features ◽  
Insight Into

Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.

Beta-ketothiolase deficiency brought with lethargy: Case report

2011 ◽  
Vol 30 (10) ◽  
pp. 1724-1727 ◽  
Author(s):  
Vefik Arica ◽  
Secil Gunher Arica ◽  
Huseyin Dag ◽  
Hatice Onur ◽  
Ömer Obut ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Blood Glucose ◽  
Amino Acid ◽  
Ketone Body ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Branched Chain Amino Acid ◽  
Amino Acid Levels ◽  
Branched Chain

Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

Differential diagnosis of pseudotrisomy 13 syndrome

2012 ◽  
Vol 1 (1-2) ◽  
Author(s):  
Danízar Vásquez Carlón ◽  
Margarita Alvarez de la Rosa Rodríguez ◽  
Ana I. Padilla Pérez ◽  
Ingrid Martínez Wallin ◽  
Juan M. Troyano Luque
Keyword(s):  
Differential Diagnosis ◽  
Prenatal Diagnosis ◽  
Poor Prognosis ◽  
Autosomal Recessive ◽  
Literature Search ◽  
Normal Karyotype ◽  
Autosomal Recessive Disorder ◽  
Limited Information ◽  
The Poor ◽  
Similar Phenotype

AbstractPseudotrisomy 13 syndrome is determined by the combination of three findings: holoprosencephaly, postaxial polydactyly, and a normal karyotype. We report two cases of a prenatal diagnosis of pseudotrisomy 13 syndrome and one case of a suspected hydrolethalus syndrome, another disorder with a similar phenotype and karyotype. Thorough literature search yields limited information, and the genetic cause of this syndrome remains unclear; however, it is thought to be monogenic and inherited as an autosomal recessive disorder. Given the poor prognosis and the easily recognizable malformations associated with this disease, it is important to perform an early diagnosis.

scholarly journals Alpha II Antiplasmin Deficiency Complicating Pregnancy: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Brenda Dawley
Keyword(s):  
Case Report ◽  
Prenatal Care ◽  
Medical History ◽  
Multidisciplinary Team ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Severe Preeclampsia ◽  
Team Approach ◽  
Multidisciplinary Team Approach ◽  
Multiple Episodes

Background. Alpha II antiplasmin is a protein involved in the inhibition of fibrinolysis. A deficiency in this protein leads to increased hemorrhage. It is inherited in an autosomal recessive fashion.Case. 30-year-old Gravida 1, Para 0, presented for prenatal care with her first and subsequently her second pregnancy. Her medical history was significant for a known deficiency in alpha II antiplasmin. Her first and second pregnancies were complicated by nonobstetrical hemorrhage requiring transfusions and severe preeclampsia requiring preterm deliveries.Conclusion. Alpha II antiplasmin deficiency resulted in multiple episodes of nonobstetrical hemorrhages requiring transfusion and ultimately preterm deliveries due to severe preeclampsia. Both infants and mother had a good outcome. The presence of this disorder may require a multidisciplinary team approach involving obstetricians, pediatricians, and hematologists.Precis. Alpha II antiplasmin deficiency is a rare autosomal recessive disorder leading to increased fibrinolysis and hemorrhage. We present a case report of a pregnancy complicated by this disorder.

scholarly journals Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

scholarly journals Carnitine Palmitoyltranferase Type 1 Deficiency: A Case Report of Fatty Acid Oxidation Disorder Encephalopathy

2020 ◽  
Author(s):  
Pantea Tajik ◽  
Amir Hossein Goudarzian ◽  
Zeinab Pourzahabi
Keyword(s):  
Case Report ◽  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Autosomal Recessive ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Acid Oxidation ◽  
Ketotic Hypoglycemia ◽  
Recessive Defect ◽  
Carnitine Palmitoyltransferase 1

Background: Carnitine palmitoyltransferase-1 (CPT-1) deficiency is a rare autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fewer than 30 case reports. Case report: A 30-month-old child with fever and loss of consciousness was referred to our hospital. She had symptoms of colds for three days that were treated, but she had anorexia.Her abdomen was soft and hepatomegaly 5 cm below the edge of the rib was detected. According to a neurological consultation, with the probability of a seizure, the patient beganto receive levetiracetam. The patient was treated with sodium benzoate due to her decreased level of consciousness and increased blood ammonia (300). In the acylcarnitine profile, mildlyelevated levels of single acylcarnitine were seen to confirm the diagnosis of CPT-1 deficiency. Conclusions: CPT-1 deficiency is a rare autosomal recessive defect of mitochondrial longchain fatty acid oxidation that presents as an acute “Reye-like” hepatic encephalopathy andnon-ketotic hypoglycemia, developmental delay, and hepatomegaly.

scholarly journals Imerslund-Grasbeck Syndrome: A Case Report

2011 ◽  
Vol 31 (3) ◽  
pp. 249-250
Author(s):  
TN Ghosh ◽  
K Nayek ◽  
A Banerjee
Keyword(s):  
Case Report ◽  
Early Detection ◽  
Vitamin B12 ◽  
Key Words ◽  
Genetic Counselling ◽  
Terminal Ileum ◽  
Autosomal Recessive ◽  
Intrinsic Factor ◽  
Autosomal Recessive Disorder ◽  
Megaloblastic Anaemia

Imerslund-Grasbeck syndrome is a rare autosomal recessive disorder due to selective malabsorption of Vitamin B12 at the level of cobalamin-intrinsic factor receptor mutation in the terminal ileum resulting in megaloblastic anaemia with proteinuria. Early detection of this rare disorder would enable screening and genetic counselling for asymptomatic family members. Key words: Imerslund Grasbeck Syndrome; Megaloblastic anaemia; Proteinuria DOI: http://dx.doi.org/10.3126/jnps.v31i3.5159 J Nep Paedtr Soc 2011;31(3): 249-250

scholarly journals Gitelman's Syndrome Presented with Tetany: A Case Report

2013 ◽  
Vol 6 (1) ◽  
pp. 34-36
Author(s):  
Md Zahid Alam ◽  
AMB Safdar ◽  
Shabnam Jahan Hoque ◽  
Rownak Jahan Tamanna ◽  
Rowsan Ara ◽  
...  
Keyword(s):  
Case Report ◽  
Sodium Chloride ◽  
Female Patient ◽  
Muscle Weakness ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Distal Tubule ◽  
Gitelman's Syndrome ◽  
Hypokalemic Alkalosis ◽  
Electrolyte Abnormalities

Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’s syndrome in a 44 years old female patient who presented with generalized muscle weakness and carpal spasm and characteristic electrolyte abnormalities. This condition is sometimes confused with Bartter’s syndrome. DOI: http://dx.doi.org/10.3329/imcj.v6i1.14724 Ibrahim Med. Coll. J. 2012; 6(1): 34-36

scholarly journals Neurodegeneration with brain iron accumulation: A case report

2016 ◽  
Vol 10 (2) ◽  
pp. 160-164 ◽  
Author(s):  
Daniel Nassif ◽  
João Santos Pereira ◽  
Mariana Spitz ◽  
Cláudia Capitão ◽  
Alessandra Faria
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Autosomal Recessive ◽  
Psychiatric Symptoms ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Diagnostic Importance ◽  
Abnormal Brain

ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

scholarly journals Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy

2012 ◽  
Vol 39 (4) ◽  
pp. 516-519 ◽  
Author(s):  
Majid Alfadhel ◽  
Sandra Sirrs ◽  
Paula J. Waters ◽  
András Szeitz ◽  
Eduard Struys ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Intellectual Disability ◽  
Genetic Background ◽  
Autosomal Recessive ◽  
Vitamin B ◽  
Missense Mutations ◽  
Compound Heterozygosity ◽  
Speech Delay ◽  
Seizure Disorders

Background:Pyridoxine dependent epilepsy (PDE) is characterized by neonatal epileptic encepahalopathy responsive to pharmacological doses of vitamin B6. Recently an autosomal recessive deficiency in Antiquitin (ALDH7A1), a gene involved in the catabolism of lysine has been identified as the underlying cause.Case report:In 21 and 23 year-old sisters, who had presented with neonatal / early infantile onset seizures, PDE was confirmed by elevated urinary alpha aminoadipic- 6- semialdehyde (α-AASA) excretion and compound heterozygosity for two known ALDH7A1 missense mutations. Although epilepsy was well controlled upon treatment with pyridoxine, thiamine, phenytoin and carbamazepine since early infancy, both had developmental delay with prominent speech delay as children. As adults, despite the same genetic background and early treatment with pyridoxine, their degree of intellectual disability (ID) differed widely. While the older sister's cognitive functions were in the moderate ID range and she was not able to live unattended, the younger sister had only mild ID and was able to live independently.Conclusion:Although seizures are a defining feature of PDE, other disease manifestations can vary widely even within the same family. Adult neurologists should be aware that the diagnosis of PDE can be delayed and PDE should be considered in the differential diagnosis of adults with seizure disorders dating from childhood.

Sign in / Sign up

Export Citation Format

Share Document