Chudley–McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis

2021 ◽  
Author(s):  
Leonardo Furtado Freitas ◽  
Gabriel Santaterra Barros ◽  
Enrico Affonso Barletta ◽  
Pablo Picasso de Araújo Coimbra ◽  
Charles Marques Lourenço ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Developmental Delays ◽  
Early Recognition ◽  
Clinical Syndrome ◽  
Diagnostic Odyssey ◽  
Cerebellar Dysplasia ◽  
Autosomal Recessive Condition

AbstractChudley–McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.

Andermann Syndrome in a Pakistani Family Caused by a Novel Mutation in SLC12A6

2017 ◽  
Vol 15 (02) ◽  
pp. 090-094 ◽  
Author(s):  
Tatiana Muñoz ◽  
Pradeep Krishnan ◽  
Jiri Vajsar ◽  
Suzanne Laughlin ◽  
Grace Yoon
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Developmental Delays ◽  
Novel Mutation ◽  
Pakistani Family ◽  
Truncated Protein ◽  
Pakistani Origin ◽  
Autosomal Recessive Condition ◽  
Eventual Loss ◽  
Limited Lifespan

AbstractAgenesis of the corpus callosum with peripheral neuropathy (ACCPN) or Andermann syndrome is an autosomal recessive condition caused by mutations in SLC12A6. The neurodegenerative features are characterized primarily by severe and progressive polyneuropathy, with eventual loss of ambulation and limited lifespan. We report two siblings with Andermann syndrome from a consanguineous Pakistani family with severe global developmental delays, sensory-motor polyneuropathy, and complete agenesis of the corpus callosum, associated with a homozygous c.745+2T>A mutation in SLC12A6. This sequence change is predicted to inactivate the donor splice site and abolish correct splicing of intron 6, yielding an abnormally truncated protein. This is the first report of Andermann syndrome in patients of Pakistani origin, which supports the pan-ethnic incidence of this condition.

Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

2021 ◽  
Vol 14 (10) ◽  
pp. e244641
Author(s):  
Petya Bogdanova-Mihaylova ◽  
Patricia McNamara ◽  
Sarah Burton-Jones ◽  
Sinéad M Murphy
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Rare Condition ◽  
Compound Heterozygous ◽  
Sensorimotor Neuropathy ◽  
Autosomal Recessive Condition ◽  
Solute Carrier ◽  
Compound Heterozygous Mutations ◽  
Clinical Phenotyping

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in SLC12A6 (solute carrier family 12, member 6) encoding the K+–Cl- transporter KCC3 have been identified as the genetic cause of HMSN/ACC. We describe fraternal twins with compound heterozygous mutations in SLC12A6 and much milder phenotype than usually described. Neither of our patients requires assistance to walk. The female twin is still running and has a normal intellect. Charcot-Marie-Tooth Examination Score 2 was 8/28 in the brother and 5/28 in the sister. Neurophysiology demonstrated a length-dependent sensorimotor neuropathy. MRI brain showed normal corpus callosum. Genetic analysis revealed compound heterozygous mutations in SLC12A6, including a whole gene deletion. These cases expand the clinical and genetic phenotype of this rare condition and highlight the importance of careful clinical phenotyping.

scholarly journals The role of the dentist and orthodontist in recognizing oro-facial manifestations of acromegaly: a questionnaire-based study

Pituitary ◽  
2021 ◽  
Author(s):  
Giorgia Preo ◽  
Alberto De Stefani ◽  
Francesca Dassie ◽  
Alexandra Wennberg ◽  
Roberto Vettor ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Early Recognition ◽  
Sella Turcica ◽  
Mandibular Prognathism ◽  
Oral Manifestation ◽  
Number Of Patients ◽  
High Prevalence ◽  
Strategic Role

Abstract Purpose Oro-facial manifestations of acromegaly are among the earliest signs of the disease and are reported by a significant number of patients at diagnosis. Despite this high prevalence of acromegaly oral manifestation, dentists do not play a pivotal role in acromegaly identification and diagnosis. The aim of our study was to evaluate the ability of dentists and orthodontists in the early recognition of the oro-facial manifestations of acromegaly. Methods A telematic questionnaire was administered to dentists and orthodontists. The questionnaire included photos with facial and oral-dental details and lateral teleradiography of acromegaly patients (ACRO). Results The study included 426 participants: 220 dentists and 206 orthodontists. Upon reviewing the photos, dentists most often observed mandibular prognathism and lips projection, while orthodontists also reported the impairment of relative soft tissue. Orthodontists, who usually use photos to document patients’ oral-facial characteristics, paid more attention to oral-facial impairment than dentists. During dental assessment, 90% of the participants usually evaluated tongue size and appearance, diastemas presence, and signs of sleep impairment (mainly orthodontists). Orthodontists were also more able to identify sella turcica enlargement at teleradiography. A total of 10.8% of the participants had ACRO as patients and 11.3% referred at least one patient for acromegaly suspicion. Conclusion The study highlighted dentists’ strategic role in identifying ACRO. Increasing dentists’ awareness about acromegaly clinical issues may improve early diagnosis, potentially resulting in an increased quality of life and decreased mortality among ACRO.

scholarly journals Untreated Depressive Symptoms Significantly Worsen Quality of Life of the Elderly and may Lead to the Misdiagnosis of Dementia: A Cross-Sectional Study

2020 ◽  
Author(s):  
Viktor Voros ◽  
Sandor Fekete ◽  
Tamas Tenyi ◽  
Zoltan Rihmer ◽  
Ilona Szili ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Cognitive Impairment ◽  
Depressive Symptoms ◽  
Depressive Disorders ◽  
Early Recognition ◽  
The Elderly ◽  
Screening Tools ◽  
Adequate Treatment

Abstract Background: Several studies demonstrated the role of depressive mood and cognitive impairment in the background of elevated mortality and decreased Quality of Life (QoL) of the elderly.Methods: In the framework of the ICT4Life project self-administered questionnaires and clinical screening tools were used to assess QoL, depressive symptoms and cognitive functions of 60 elderly over the age of 65.Results: Males found to be depressed and cognitively declined more frequently; and had higher scores on the depression and lower on the QoL scales. Depressed elderly had lower cognitive levels and their QoL was significantly poorer than that of the non-depressed subjects. Depressive disorders were detected in a quarter of the elderly, and the majority of them did not receive adequate antidepressant medication.Conclusions: Close correlation between depression and cognitive impairment was confirmed, as well as the key role of depression in the background of QoL decline. Results also highlighted the problems of recognition and adequate treatment of depression and cognitive decline in elderly, which can be further complicated by the common symptoms of depressive pseudo-dementia. Early recognition of depressive symptoms is important not only to treat the underlying mood disorder, but also to improve QoL of the elderly.

scholarly journals Role of Argwadha Nitya Virechana in Madhumeha (Diabetes Mellitus-II): A Case Study

2021 ◽  
pp. 170-176
Author(s):  
Shilpa Bhaskarrao Deshpande ◽  
Shweta Parwe ◽  
Milind Nisargandha
Keyword(s):  
Diabetes Mellitus ◽  
Blood Sugar ◽  
Blood Sugar Level ◽  
Single Case ◽  
Clinical Syndrome ◽  
Single Case Study ◽  
Number Of Patients

Diabetes Mellitus is now considered a pandemic. Especially in India, the number of patients increased at 14% prediabetic, becoming the capital of Diabetes. It is a clinical syndrome which is characterize by an increased level of blood sugar. In Ayurveda, the ṁadhumeha is explained as a type of prameha. The kinds of madhumeha is of two. One is dhatukshaya, and other is avaranjanya. The avaranjanya type of Madhumeha is allowed to be treated with the shodhana process. In which vamana and virechana are effective. Objective: The objective of this study was to study the efficacy of Nitya Virechana in the management of madhumeha. Case report: A single case study of a 59 yrs old male patient who was already diagnosed with madhumeha before 21 days. Symptoms such as pippasa, shramdaurbalya, Bahumutrata were present; after investigation, he was advised for Nitya Virechana. Result: Symptomatic assessment of the patient was carried out after treatment i.e. after Nitya Virechana and outcome was satisfactory, and the quality of life of patient was significantly improved. Conclusion: Nitya Virechana brought about good relief in symptoms in patients with Madhumeha and controlling the blood sugar level.

scholarly journals Long Non-coding RNA RMRP in the Pathogenesis of Human Disorders

2021 ◽  
Vol 9 ◽  
Author(s):  
Bashdar Mahmud Hussen ◽  
Tahereh Azimi ◽  
Hazha Jamal Hidayat ◽  
Mohammad Taheri ◽  
Soudeh Ghafouri-Fard
Keyword(s):  
Rna Processing ◽  
Autosomal Recessive ◽  
Mitochondrial Rna ◽  
Cancer Breast ◽  
Non Coding Rna ◽  
Human Disorders ◽  
Autosomal Recessive Condition ◽  
Cancer Côlon ◽  
Long Non Coding Rna

RNA component of mitochondrial RNA processing endoribonuclease (RMRP) is a non-coding transcript firstly acknowledged for its association with the cartilage-hair hypoplasia (CHH) syndrome, a rare autosomal recessive condition. This transcript has been spotted in both nucleus and mitochondria. In addition to its role in the pathogenesis of CHH, RMRP participates in the pathogenesis of cancers. Independent studies in bladder cancer, colon cancer, hepatocellular carcinoma, lung cancer, breast carcinoma and multiple myeloma have confirmed the oncogenic effects of RMRP. Mechanistically, RMRP serves as a sponge for some miRNAs such as miR-206, miR-613, and miR-217. In addition to these miRNAs, expressions of tens of miRNAs have been altered following RMRP silencing, implying the vast extent of RMRP/miRNA network. In the present narrative review, we explain the role of RMRP in the development of cancers and some other non-malignant disorders.

scholarly journals Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision

2021 ◽  
pp. 174-181
Author(s):  
Armin Farahvash ◽  
Charles D. Kassardjian ◽  
Jonathan A. Micieli
Keyword(s):  
Thymidine Phosphorylase ◽  
Autosomal Recessive ◽  
Pathogenic Mutation ◽  
Clinical Syndrome ◽  
Progressive External Ophthalmoplegia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Gastrointestinal Dysmotility ◽  
History Of ◽  
Autosomal Recessive Condition ◽  
Future Therapy

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal recessive condition characterized by gastrointestinal dysmotility, external ophthalmoplegia, leukoencephalopathy, and sensorimotor neuropathy. A 31-year-old man was referred for a 1-year history of horizontal diplopia related to a large exotropia from chronic progressive external ophthalmoplegia. MRI revealed a diffuse leukoencephalopathy and his 3-year history of chronic intermittent diarrhea, cachexia, and diffuse sensory more than motor peripheral neuropathy led to a unifying clinical diagnosis of MNGIE. This was later confirmed with genetic testing, which revealed a homozygous pathogenic mutation in the thymidine phosphorylase (TYMP) gene. His younger brother had an identical clinical syndrome and was similarly diagnosed. MNGIE diagnosis is important to establish to avoid unnecessary invasive testing for gastrointestinal, ophthalmological, and neurological symptoms and to ensure patients receive appropriate nutritional and genetic counselling. Gene therapy offers a potential future therapy for patients with this condition.

The Quality of Life of Thalassemic Patients: The Role of Endocrine Defect Compensation

2021 ◽  
Vol 21 ◽  
Author(s):  
Lorenza Mattia ◽  
Irene Samperi ◽  
Salvatore Monti ◽  
Vincenzo Toscano ◽  
Giuseppe Pugliese ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Early Recognition ◽  
Pubertal Development ◽  
Hormone Deficiency ◽  
Limited Data ◽  
Appropriate Therapy ◽  
Detrimental Impact

Background: The improvement of beta thalassaemia treatments has led to an increase in life expectancy. This implies the emergence of new comorbidities. Amongst others, endocrine glands are extremely sensitive to iron overload. Objective: We aimed to understand the burden of the endocrine conditions on the patient’s quality of life (QOL). Results: Hypogonadism may present with lack or delay of pubertal development, sexual dysfunctions and impaired fertility, which impact QOL in both sexes. Early recognition and treatment, as well as choosing the most appropriate therapy, according to patient’s needs (fertility, pubertal development, psychological concerns, comorbidities) are advisable. Osteoporosis affects QOL irrespective of symptoms. Growth hormone deficiency may occur both in childhood and in adulthood, and it affects different aspects of QOL. In adults, it could be difficult to examine if the symptoms are due to GHD, and a trial of GH replacement could be useful to identify benefits and needs. Glucose metabolism impairment is common in thalassaemic patients and early recognition is mandatory because long-term complication can have a detrimental impact on QOL (as blindness or dialysis). Although the incidence of adrenal insufficiency seems to be rare in thalassaemic patients, when it occurs, it has a severe impact on QOL. Conclusion: Limited data is available on QOL in thalassaemic patients, and even less related to endocrinopathies. We can speculate that endocrinopathies have an impact on everyday life. More studies are needed to allow our patients to achieve not just a longer life but also a better quality of life.

Cognitive Health Counseling 40+

2013 ◽  
Vol 21 (1) ◽  
pp. 24-33 ◽  
Author(s):  
Anne Eschen ◽  
Franzisca Zehnder ◽  
Mike Martin
Keyword(s):  
Outcome Variable ◽  
Pilot Phase ◽  
Subjective Memory ◽  
Cognitive Health ◽  
Health Counseling ◽  
Agents Of Change ◽  
Main Outcome Variable ◽  
Further Development

This article introduces Cognitive Health Counseling 40+ (CH.CO40+), an individualized intervention that is conceptually based on the orchestration model of quality-of-life management ( Martin & Kliegel, 2010 ) and aims at improving satisfaction with cognitive health in adults aged 40 years and older. We describe the theoretically deduced characteristics of CH.CO40+, its target group, its multifactorial nature, its individualization, the application of subjective and objective measures, the role of participants as agents of change, and the rationale for choosing participants’ satisfaction with their cognitive health as main outcome variable. A pilot phase with 15 middle-aged and six older adults suggests that CH.CO40+ attracts, and may be particularly suitable for, subjective memory complainers. Implications of the pilot data for the further development of the intervention are discussed.

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