scholarly journals Cockayne Syndrome with ERCC8 Gene Mutation: A Case Report

2021 ◽  
Vol 44 (3) ◽  
pp. 181-183
Author(s):  
Kanij Fatema ◽  
Md Mizanur Rahman ◽  
Shaheen Akhter
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Cockayne Syndrome ◽  
Global Developmental Delay ◽  
Hearing Disorders ◽  
Cognitive Delay ◽  
Intracerebral Calcification

Cockayne syndrome (CS) is a genetic disorder characterized by growth failure, microcephaly, cognitive delay, visual and hearing disorders. Patients usually present with dysmorphism and global delay. It is an autosomal recessive disorder, mutation of two genes ERCC8 and ERCC6 were observed. We report a 4 year old child who was diagnosed as a case of Cockayne syndrome, based on clinical, neuroimaging and genetic study findings. This case had growth failure, dysmorphism, optic atrophy, global developmental delay, intracerebral calcification and mutation of ERCC8 gene. Bangladesh J Child Health 2020; VOL 44 (3) :181-183

scholarly journals A Case Report: Papillon Lefevre Syndrome

2019 ◽  
Vol 3 (2) ◽  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Genetic Disorder ◽  
Autosomal Recessive Disorder ◽  
Antimicrobial Treatment ◽  
Periodontal Treatment ◽  
Permanent Teeth ◽  
Gingival Inflammation ◽  
Palmoplantar Hyperkeratosis

Study Background: Papillon Lefevre Syndrome (PLS) is an autosomal recessive inherited genetic disorder characterized by palmoplantar hyperkeratosis and premature loss of deciduous and permanent teeth. Mutation of cathepsin C gene has been detected in the patient with PLS. In this case report, oral and radioghaphic findings of one PLS patient were discussed. 14 year old male patient diagnosed with PLS after radiographic, dermatologic and dental examination was referred to our clinic due to severe gingival inflamation and mobility. Severe gingival inflamation, alveolar bone resorption and multiple teeth loss due to periodontal reasons were observed. Mild palmar and moderate plantar hyperkeratosis were observed but no other systemic problems were detected. Methods: Non-surgical periodontal treatment was perfomed among multiple sessions and in each session subgingival tissues had been irrigated with %2 chlorhexidine irrigation solution. To reduce severe gingival inflammation antibiotherary has been prescribed. Hopeless teeth were extracted. Results: After non-surgical periodontal treatment and antibiotherary severe gingival inflammation was reduced but not eliminated completely, mobility score of some teeth reached to zero score, patient was motivated about oral hygiene and was taken into maintanence phases. After having extracted hopeless teeth patient was directed for prosthodontic rehabilitation. Conclusion: PLS is a rare autosomal recessive disorder. With PLS-specific dermatologic findings and characteristic periodontal view, it is possible to be able to identify the disease in its very early stages. Early diagnosis of the disease and institution of an appropriate periodontal and antimicrobial treatment might improve the prognosis.

Arginase Deficiency Presenting as Cerebral Palsy

PEDIATRICS ◽  
1993 ◽  
Vol 91 (5) ◽  
pp. 995-996
Author(s):  
ANGELA E. SCHEUERLE ◽  
ROBERT MCVIE ◽  
ARTHUR L. BEAUDET ◽  
STUART K. SHAPIRA
Keyword(s):  
Cerebral Palsy ◽  
Autosomal Recessive ◽  
Urea Cycle ◽  
Case Reports ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Retardation ◽  
Uncomplicated Pregnancy ◽  
Arginase Deficiency ◽  
Cycle Disorders

Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 We describe two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency. This suggests that the condition may be underdiagnosed because of its relatively mild symptoms. CASE REPORTS Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

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.

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 Imaging manifestations of juvenile hyaline fibromatosis: A case report and literature review

2022 ◽  
Author(s):  
Jinfen Yu ◽  
Wang Linsheng ◽  
Tian Jing ◽  
Yu Xuewen ◽  
Lixin Sun
Keyword(s):  
Skeletal Muscle ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Juvenile Hyaline Fibromatosis ◽  
Autosomal Recessive Condition ◽  
Hypointense Signal ◽  
Head Neck ◽  
Chromosome 4Q21 ◽  
Hyaline Material

Objective: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 8-year-old male (case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were nonconsanguineous. Results : JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.

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

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