scholarly journals Frameshift Mutation in Polar Rich Domain (PRD) of PQBP1 Gene Associated with Asymmetric Cerebellar Hemispheres: A Case Report of Renpenning Syndrome

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Dejan Aleksic ◽  
Milan Borkovic ◽  
Jelena Krivacic ◽  
Igor Petrusic ◽  
Vedrana Milic Rasic
Keyword(s):  
Case Report ◽  
Frameshift Mutation ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Cerebellar Hemisphere ◽  
Mild Intellectual Disability ◽  
Chordae Tendineae ◽  
Nasal Bridge ◽  
First Case ◽  
Midfacial Hypoplasia

Introduction: In 1962, Renpenning et al. published an article with 20 male patients from three generations with mental retardation. Scientists suggested that the syndrome with mutation mapped to the locus Xp11.2-p11.4 should be called Renpenning syndrome. The deletion/duplication of an AG dinucleotide on proximal Xp in the polyglutamine tract-binding protein 1 (PQBP1) gene causing frameshift in the fourth coding exon was identified as the most frequent mutation in this syndrome. Renpenning syndrome with asymmetric cerebellar hemispheres has not been reported previously. Case Presentation: In this case report, we presented an 11-year-old male with mild developmental delay and mild intellectual disability, microcephaly, dysmorphic face, short stature, and seizures. The following morphological abnormalities were detected: a wide nasal bridge, midfacial hypoplasia, short philtrum, low-set ears, low hanging columella, high palate, and narrow face. Neurological examination showed upper and lower extremities hypotonia with joint hypermobility. The patient had his first seizure at the age of seven, and he experienced a total of 10 seizures by the age 11. A systolic murmur of intensity 2/6 was present, and echocardiography showed chordae tendineae abnormalities in the left ventricle. Brain magnetic resonance imaging (MRI) showed asymmetric cerebellar hemispheres (mild right cerebellar hemisphere hypoplasia). A frameshift mutation in the polar reach domain (PRD) of the PQBP1 gene (c.459-462 delAGAG) was detected by exome sequencing. Conclusions: We showed the first case of genetically confirmed Renpenning syndrome in Serbia. Our patient had classical clinical manifestations for Renpenning syndrome as a consequence of frameshift mutation in the PRD of the PQBP1 gene. To the best of our knowledge, according to the literature, this is the first patient with Renpenning syndrome with asymmetric cerebellar hemispheres (mild right cerebellar hemisphere hypoplasia).

scholarly journals Catecholaminergic Crisis After a Bleeding Complication of COVID-19 Infection: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Angel Rebollo-Román ◽  
Maria R. Alhambra-Expósito ◽  
Yiraldine Herrera-Martínez ◽  
F. Leiva-Cepas ◽  
Carlos Alzas ◽  
...  
Keyword(s):  
Case Report ◽  
Severe Acute Respiratory Syndrome ◽  
Medical Treatment ◽  
Bleeding Complication ◽  
Adrenal Mass ◽  
Symptom Control ◽  
Clinical Manifestations ◽  
First Case ◽  
Thrombotic Complications

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) presents in some cases with hemostatic and thrombotic complications. Pheochromocytomas are unusual, though potentially lethal tumors. Herein we describe the first case of hemorrhage in a pheochromocytoma related to SARS-CoV-2 infection. A 62-year-old man consulted for syncope, fever, and palpitations. He was diagnosed with SARS-CoV-2 pneumonia and presented with a hemorrhage in a previously unknown adrenal mass, which resulted in a catecholaminergic crisis. Medical treatment and surgery were required for symptom control and stabilization. We hereby alert clinicians to watch for additional/unreported clinical manifestations in COVID-19 infection.

scholarly journals GM1 gangliosidosis: Case report

2010 ◽  
Vol 63 (5-6) ◽  
pp. 427-430
Author(s):  
Slobodan Obradovic ◽  
Olivera Laban ◽  
Zoran Igrutinovic ◽  
Biljana Vuletic ◽  
Ana Vujic ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Manifestations ◽  
Lysosomal Storage Disorders ◽  
Facial Features ◽  
Lysosomal Storage ◽  
Nasal Bridge ◽  
Gm1 Gangliosidosis ◽  
Decerebrate Rigidity ◽  
Depressed Nasal Bridge ◽  
Storage Disorders

Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions. Case report. We present a patient with an early, infintile type of GM1 gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with amimic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. Conclusion. The absence of ?-galaktosidase enzyme activaty at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.

scholarly journals Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome

2021 ◽  
Vol 13 ◽  
Author(s):  
Yi-Hui Liu ◽  
Hai-Feng Zhang ◽  
Jie-Yuan Jin ◽  
Yan-Qiu Wei ◽  
Chen-Yu Wang ◽  
...  
Keyword(s):  
Case Report ◽  
White Matter ◽  
Kidney Disease ◽  
Messenger Rna ◽  
Vision Loss ◽  
Clinical Manifestations ◽  
White Matter Lesions ◽  
Homozygous Mutation ◽  
Inherited Disorders ◽  
First Case

Leukodystrophies are a heterogeneous group of inherited disorders with highly variable clinical manifestations and pathogenetic backgrounds. At present, variants in more than 20 genes have been described and may be responsible for different types of leukodystrophies. Members of the phospholipase D family of enzymes catalyze the hydrolysis of membrane phospholipids. Meanwhile, phospholipase D3 (PLD3) has also been found to exhibit single stranded DNA (ssDNA) acid 5′ exonuclease activity. Variants in phospholipase D3 (PLD3) may increase the risk of Alzheimer's disease and spinocerebellar ataxia, but this hypothesis has not been fully confirmed. In this study, we identified a novel homozygous mutation (NM_012268.3: c.186C>G/ p.Y62X) of PLD3 in a consanguineous family with white matter lesions, hearing and vision loss, and kidney disease by whole exome sequencing. Real-time PCR revealed that the novel mutation may lead to non-sense-mediated messenger RNA (mRNA) decay. This may be the first case report on the homozygous mutation of PLD3 in patients worldwide. Our studies indicated that homozygous mutation of PLD3 may result in a novel leukoencephalopathy syndrome with white matter lesions, hearing and vision loss, and kidney disease.

scholarly journals POLR3A-related hypomyelinating leukodystrophy: case report and literature review

2020 ◽  
Vol 11 (4) ◽  
pp. 48-54
Author(s):  
A. F. Murtazina ◽  
T. V. Markova ◽  
A. A. Orlova ◽  
O. P. Ryzhkova ◽  
O. A. Shchagina ◽  
...  
Keyword(s):  
Case Report ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Permanent Teeth ◽  
Diagnostic Process ◽  
Compound Heterozygous ◽  
Compound Heterozygous Variants ◽  
First Year Of Life

Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin deposition. One of the most common autosomal recessive HL is HL type 7 caused by mutations in the POLR3A gene. We reported the first clinical case of a Russian patient with HL type 7.Proband is a 7‑year‑old patient with HL type 7. The diagnosis was confirmed by genealogy, neurological examination, brain magnetic resonance imaging and molecular genetic testing. Two compound‑heterozygous variants in the POLR3A gene were revealed in the patient. Each variant was described earlier in patients with variable clinical manifestations of neurodegenerative diseases. The peculiarities of clinical manifestations in our patient were the manifestation of the disease in the first year of life, the predominance of cerebellar symptoms, a movement limitation of the jaw, leading to worsening of dysarthria, a delay in the formation of permanent teeth and short stature. The course of the disease was moderate that could be explained by different effect of the variants in the POLR3A gene.POLR3A‑related disease is a group of clinically heterogeneous disorders manifesting from early childhood to adulthood and characterized by isolated spastic ataxia or ataxia combined with oligodontia and hypogonadotropic hypogonadism, isolated or complicated spastic paraplegia, as well as a combination of ataxia with extrapyramidal symptoms. Our case report demonstrates the complexity of diagnostic process in the absence of a peculiar clinical picture and specific changes in brain imaging.

scholarly journals Neonatal Cholestasis: A Rare and Unusual Presentation of Pituitary Stalk Interruption Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
R. El Qadiry ◽  
A. Ouayad ◽  
H. Nassih ◽  
A. Bourrahouat ◽  
I. Ait Sab
Keyword(s):  
Case Report ◽  
Hormone Replacement ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Pituitary Hormones ◽  
Unusual Presentation ◽  
Pituitary Stalk ◽  
Endocrine Disorders ◽  
Neonatal Cholestasis ◽  
Rapid Improvement

Pituitary stalk interruption syndrome (PSIS) is a very rare entity, and the clinical manifestations are nonspecific. Neonatal cholestasis due to endocrine disorders is rare and poorly recognized. Our case report describes a case of PSIS in a Moroccan infant revealed by isolated neonatal cholestasis, which is an unusual presentation in children. Case report. A 40-day-old girl was admitted to our department for progressive cholestatic jaundice appeared on the third day of life. She was born from a non-consanguineous marriage, and her prenatal and perinatal history went without incident. Physical examination showed icteric skin and sclera, without hepatomegaly. Analysis of pituitary hormones revealed panhypopituitarism. On brain magnetic resonance imaging (MRI), the pituitary stalk was absent, the posterior pituitary was ectopic, and the anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. The treatment consisted of hormone replacement with rapid improvement of her clinical condition. Conclusion. Panhypopituitarism, a consequence of PSIS, is a rare cause of neonatal cholestasis. However, pediatricians should keep this syndrome in mind for patients who present with neonatal cholestasis.

scholarly journals Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Paola E. Leone ◽  
Verónica Yumiceba ◽  
Ariana Jijón-Vergara ◽  
Andy Pérez-Villa ◽  
Isaac Armendáriz-Castillo ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Clinical Features ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Genomic Analysis ◽  
Common Finding ◽  
Mild Intellectual Disability ◽  
First Case ◽  
Conventional Cytogenetics

Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

scholarly journals Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ying Huang ◽  
Ge Jin ◽  
Qun-ling Zhan ◽  
Yun Tian ◽  
Lu Shen
Keyword(s):  
Case Report ◽  
Clinical Characteristics ◽  
Spherical Inclusion ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
High Signal ◽  
Autonomic Nerves ◽  
Intranuclear Inclusion ◽  
Main Site ◽  
Neuronal Intranuclear Inclusion

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical characteristics are varied, affecting the central and peripheral nervous systems and autonomic nerves. In this study, we present an NIID case with both stroke-like onset and encephalitic attacks, which is a rare case report. Case presentation A 68-year-old Chinese female presented with sudden aphasia and limb hemiplegia as the first symptoms, as well as fever, cognitive impairment and mental irritability from encephalitic attacks. During hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity from diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. Electrophysiological tests revealed the main site of injury was at the myelin sheath in the motor nerves. A skin biopsy revealed eosinophilic spherical inclusion bodies in the nuclei of small sweat gland cells, fibroblasts and fat cells, whilst immunohistochemistry revealed that p62 and ubiquitin antibodies were positive. From genetic analyses, the patient was not a carrier of the fragile X mental retardation 1 (FMR1) permutation, but repeated GGC sequences in the NOTCH2NLC gene confirmed an NIID diagnosis. Through antipsychotic and nutritional support therapy, the patient’s symptoms were completely relieved within 3 weeks. Conclusions This report of an NIID case with both stroke-like onset and encephalitic attacks provides new information for NIID diagnoses, and a comprehensive classification of clinical characteristics.

scholarly journals Tracheo-oesophageal fistula in a patient with chronic sarcoidosis

2015 ◽  
Vol 97 (7) ◽  
pp. e100-e102 ◽  
Author(s):  
A Darr ◽  
S Mohamed ◽  
D Eaton ◽  
MS Kalkat
Keyword(s):  
Case Report ◽  
Respiratory System ◽  
Granulation Tissue ◽  
Clinical Manifestations ◽  
Unknown Aetiology ◽  
First Case ◽  
Video Fluoroscopy ◽  
Tracheal Stricture ◽  
Stent Stenosis

Sarcoidosis is a common multisystem granulomatous condition of unknown aetiology, predominantly involving the respiratory system. Tracheal stenosis has been described but we believe that we present the first case of a tracheo-oesophageal fistula secondary to chronic sarcoidosis. A 57-year-old woman with sarcoidosis, a known tracheal stricture and a Polyflex® stent in situ presented with stridor. Bronchoscopy confirmed in-stent stenosis, by exuberant granulation tissue. The stent was removed and the granulation tissue was resected accordingly. Postoperatively, the patient was noticed to have an incessant cough and video fluoroscopy raised the suspicion of a tracheo-oesophageal fistula. A repeat bronchoscopy demonstrated marked granulation tissue, accompanied by a fistulous connection with the oesophagus at the mid-lower [middle of the lower] third of the trachea. Three Polyflex® stents were sited across the entire length of the trachea. Sarcoidosis presents with varying clinical manifestations and disease progression. Tracheal involvement appears to be a rare phenomenon and usually results in stenosis. To date, there has been little or no documented literature describing the formation of a tracheo-oesophageal fistula resulting from sarcoidosis. Early reports documented the presence of sarcoidosis induced weakening in the tracheal wall, a process termed tracheal dystonia. Weaknesses are more apparent in the membranous aspect of the trachea. Despite the rare nature of such pathology, this case report highlights the need to consider the presence of a tracheo-oesophageal fistula in sarcoidosis patients presenting with repeat aspiration in the absence of an alternate pathology.

scholarly journals Case Report: Effective Treatment for Acute Chlorpyrifos Poisoning Complicated by a Non-ST-Segment Elevation Myocardial Infarction

2021 ◽  
Vol 8 ◽  
Author(s):  
Changqing Ye ◽  
Qiang Zhang ◽  
Yongsheng Chao ◽  
Chun Yin
Keyword(s):  
Myocardial Infarction ◽  
Case Report ◽  
Rare Complication ◽  
Clinical Manifestations ◽  
Organophosphorus Pesticide ◽  
Coronary Intervention ◽  
Organophosphate Insecticide ◽  
St Segment Elevation ◽  
First Case ◽  
St Segment

Background: Acute myocardial infarction (AMI) is a rare complication of acute organophosphorus pesticide poisoning. Although chlorpyrifos has been widely used as an organophosphate insecticide, a few cases of AMI complicated by chlorpyrifos poisoning have been reported thus far. Hence, a suitable treatment strategy remains to be explored.Case Presentation: Based on the clinical manifestations, medical history, results of an auxiliary examination, and serum biomarkers, a 65-year-old male farmer with complaints of nausea, vomiting, chest tightness, and pain was clearly diagnosed as having a severe chlorpyrifos self-poisoning with acute non-ST-segment elevation MI. Because the patient and his family confirmedly refused a coronary intervention, conservative treatment was used instead. It should be noted that there were some conflicts of the management for chlorpyrifos poisoning and AMI. Although rapid atropinization would contribute to the relief of muscarinic symptoms, it would also lead to an increased heart rate and myocardial oxygen consumption in AMI. Furthermore, the reduction of platelet aggregation, which is necessary for coronary recanalization of an AMI patient, is known to aggravate the gastrointestinal injury caused by poisoning. In this case, these conflicts were properly addressed, which led to an excellent effect and prognosis of the patient.Conclusions: To our knowledge, this is the first case report of acute chlorpyrifos poisoning with AMI. It is emphasized that patients with chest pain or coronary heart disease should be treated with atropine more cautiously because of the possible AMI. Moreover, proper resolution of conflicts in the management for chlorpyrifos poisoning and AMI played contributing roles in patient improvement.

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