scholarly journals Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region

2021 ◽  
Vol 9 ◽  
Author(s):  
Yu-qing Pan ◽  
Jian-hua Fu
Keyword(s):  
Cognitive Deficits ◽  
Rare Case ◽  
Clinical Phenotype ◽  
Speech Disorders ◽  
Psychomotor Retardation ◽  
Partial Deletion ◽  
Motor Delay ◽  
Feeding Difficulties ◽  
Clinical Description ◽  
Submicroscopic Deletion

Partial deletion of 10p chromosome is a rare chromosomal aberration. Submicroscopic deletion of 10p15.3 is mainly related to cognitive deficits, speech disorders, motor delay, and hypotonia with the deleted region ranging from 0.15 to 4 Mb. The clinical phenotype is mainly determined by the ZMYND11 and DIP2C genes. Here, we report a rare case of feeding difficulties, hypocalcemia, and psychomotor retardation. Our patient has a 12.48 Mb deletion in 10p15.3–10p13, which is the second case of large 10p deletion among reported cases thus far.

scholarly journals A rare case of combined immunodeficiency due to a deletion of 11(q) – Jacobsen syndrome

2020 ◽  
Vol 19 (3) ◽  
pp. 114-120
Author(s):  
N. B. Kuzmenko ◽  
O. A. Shvets ◽  
A. A. Mukhina
Keyword(s):  
Clinical Phenotype ◽  
Psychomotor Retardation ◽  
Physical Growth ◽  
Facial Dysmorphism ◽  
Combined Immunodeficiency ◽  
Chromosome 11 ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Broad Nasal Bridge

Jacobsen syndrome (JS) is a rare combined immunodeficiency caused by partial deletion of the long arm of chromosome 11. Clinical features include physical growth retardation, psychomotor retardation, characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small low set ears). Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Abnormal platelet function and immunological problems are usually present. Here we describe a patient with deletion of 11(q) chromosome resulting in clinical phenotype of the facial dysmorphisms, congenital malformations, neurological symptoms, as well as clinical and laboratory features of immunodeficiency. Features of immune dysregulation in a patient with JS are clearly characterized. Patient's parents agreed to use personal dats and photos in research and publications.

Clinical Spectrum of Mucolipidosis Type IV

PEDIATRICS ◽  
1988 ◽  
Vol 81 (4) ◽  
pp. 602-602
Author(s):  
RAPHAEL WEITZ ◽  
GERTRUDE KOHN
Keyword(s):  
Psychomotor Retardation ◽  
Clinical Spectrum ◽  
Lysosomal Storage ◽  
Motor Delay ◽  
Mucolipidosis Type Iv ◽  
Corneal Clouding ◽  
Type Iv ◽  
History Of ◽  
Corneal Opacities ◽  
Mucolipidosis Type

To the Editor.— We read with interest the presentation by Amir et al1 concerning the clinical spectrum and natural history of mucolipidosis type IV. Based on their experience with 20 patients, they try to provide guidelines for the clinical diagnosis of this lysosomal storage disease. It appears that severe visual impairment (due mainly to corneal opacities, myopia, and retinal degeneration) and psychomotor retardation are the cardinal features of this entity. However, corneal clouding and mild motor delay in their early stages may frequently be missed by even experienced pediatricians and we recently examined a 15-month-old boy who was referred to us for evaluation of a possible congenital myopathy.

scholarly journals A Case of Dermatomyositis Coexisting with Both Anti-Mi-2 and Anti-NXP-2 Antibodies

2020 ◽  
Vol 12 (2) ◽  
pp. 92-97
Author(s):  
Mitsuru Ito ◽  
Chie Moriya ◽  
Kanako Matsuyama ◽  
En Shu ◽  
Yasuhito Hamaguchi ◽  
...  
Keyword(s):  
Rare Case ◽  
Matrix Protein ◽  
Clinical Phenotype ◽  
Skin Lesions ◽  
The Other ◽  
Severe Phenotype ◽  
Nuclear Matrix Protein ◽  
Peripheral Edema ◽  
Internal Malignancy ◽  
Typical Skin

Myositis-specific autoantibodies (MSAs) including anti-Mi-2 and anti-nuclear matrix protein 2 (NXP-2) antibodies have been detected in the patients with dermatomyositis (DM), and are useful tools for identifying clinical subsets of DM. MSAs are exclusively found in DM patients. Anti-Mi-2 antibody-positive DM patients show the typical skin lesions and myositis and are rarely associated with internal malignancy and interstitial lung disease (ILD). On the other hand, adult DM patients with anti-NXP-2 antibody often show calcinosis and internal malignancy, but rarely ILD. In addition, anti-NXP-2 antibody-positive DM patients have severe phenotype with myalgia, peripheral edema, and significant dysphagia, but with mild skin lesions. Herein, we report a rare case of classic DM coexisting with both anti-Mi-2 and anti-NXP-2 antibodies, clinically, without ILD or internal malignancy. Our patient had typical skin manifestations, muscle weakness, muscle pain, and general fatigue without calcinosis, peripheral edema, or dysphagia. Thus, the clinical phenotype was similar to anti-Mi-2 antibody-positive DM.

scholarly journals An Evaluation of Rapidly Progressive Dementia Culminating in a Diagnosis of Creutzfeldt–Jakob Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Parmvir Parmar ◽  
Curtis L. Cooper ◽  
Daniel Kobewka
Keyword(s):  
Differential Diagnosis ◽  
Cognitive Deficits ◽  
Autoimmune Encephalitis ◽  
Illustrative Case ◽  
Visual Hallucinations ◽  
Progressive Dementia ◽  
History Of ◽  
Jakob Disease ◽  
Clinical Description ◽  
Sporadic Cjd

Rapidly progressive dementia is a curious and elusive clinical description of a pattern of cognitive deficits that progresses faster than typical dementia syndromes. The differential diagnosis and clinical workup for rapidly progressive dementia are quite extensive and involve searching for infectious, inflammatory, autoimmune, neoplastic, metabolic, and neurodegenerative causes. We present the case of a previously highly functional 76-year-old individual who presented with a 6-month history of rapidly progressive dementia. His most prominent symptoms were cognitive impairment, aphasia, visual hallucinations, and ataxia. Following an extensive battery of tests in hospital, the differential diagnosis remained probable CJD versus autoimmune encephalitis. He clinically deteriorated and progressed to akinetic mutism and myoclonus. He passed away 8 weeks after his initial presentation to hospital, and an autopsy confirmed a diagnosis of sporadic CJD. We use this illustrative case as a framework to discuss the clinical and diagnostic considerations in the workup for rapidly progressive dementia. We also discuss CJD and autoimmune encephalitis, the two main diagnostic possibilities in our patient, in more detail.

scholarly journals Maternal Uniparental Disomy for Chromosome 14

1996 ◽  
Vol 45 (1-2) ◽  
pp. 169-172 ◽  
Author(s):  
D.A. Coviello ◽  
E. Panucci ◽  
M.M. Mantero ◽  
C. Perfumo ◽  
M. Guelfi ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
De Novo ◽  
Clinical Phenotype ◽  
Uniparental Disomy ◽  
Chromosome 14 ◽  
Motor Delay ◽  
Maternal Uniparental Disomy ◽  
Severe Scoliosis ◽  
Severe Hypotonia

AbstractA girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, no mental retardation, severe scoliosis and motor delay. In situ hybridization analysis on chromosome spreads revealed the presence of the two centromeres in the rearranged chromosomes. Molecular analysis on genomic DNA showed the presence in the proposita of two chromosomes 14 of maternal origin and no chromosome 14 from the father indicating a maternal monocentric uniparental disomy for chromosome 14 (mUPD14). Our patient shows several similarities with other reported cases of mUPD14, suggesting imprinting of a region(s) of chromosome 14 and defining a possible mUPD14 Syndrome.

scholarly journals Corticobasal syndrome: A diagnostic conundrum

2016 ◽  
Vol 10 (4) ◽  
pp. 267-275 ◽  
Author(s):  
Jacy Bezerra Parmera ◽  
Roberta Diehl Rodriguez ◽  
Adalberto Studart Neto ◽  
Ricardo Nitrini ◽  
Sonia Maria Dozzi Brucki
Keyword(s):  
Cognitive Deficits ◽  
Clinical Phenotype ◽  
Cognitive Disorder ◽  
Diagnostic Methods ◽  
Corticobasal Syndrome ◽  
Motor Disorder ◽  
Main Challenge ◽  
Atypical Parkinsonian Syndrome ◽  
Disease Modifying Agents ◽  
Underlying Pathology

ABSTRACT Corticobasal syndrome (CBS) is an atypical parkinsonian syndrome of great interest to movement disorder specialists and behavioral neurologists. Although originally considered a primary motor disorder, it is now also recognized as a cognitive disorder, usually presenting cognitive deficits before the onset of motor symptoms. The term CBS denotes the clinical phenotype and is associated with a heterogeneous spectrum of pathologies. Given that disease-modifying agents are targeting the pathologic process, new diagnostic methods and biomarkers are being developed to predict the underlying pathology. The heterogeneity of this syndrome in terms of clinical, radiological, neuropsychological and pathological aspects poses the main challenge for evaluation.

Pica: Symptom or Eating Disorder? A Historical Assessment

1992 ◽  
Vol 160 (3) ◽  
pp. 341-354 ◽  
Author(s):  
B. Parry-Jones ◽  
W. Ll. Parry-Jones
Keyword(s):  
Eating Disorders ◽  
Anorexia Nervosa ◽  
Eating Disorder ◽  
Bulimia Nervosa ◽  
Speech Disorders ◽  
Feeding Disorder ◽  
Infancy And Childhood ◽  
The Status ◽  
Icd 10 ◽  
Clinical Description

In DSM–III–R, pica, with anorexia nervosa, bulimia nervosa and rumination disorder of infancy, is accorded the status of a separate eating disorder. However, in the Draft of ICD–10, only anorexia nervosa and bulimia nervosa are listed under eating disorders. Pica in children, and feeding disorder in infancy and childhood, are incorporated with enuresis, encopresis, and feeding, movement and speech disorders in a separate “heterogeneous group of disorders”. Extensive research on the history and terminology of eating disorders from the 16th to the 20th century suggests that, historically, pica was regarded as a symptom of other disorders rather than a separate entity. This paper aimed to locate and assess chronologically significant definitions and accounts of pica, to provide a fuller clinical description of a condition which, despite its current relevance, has received little detailed historical examination, and to give some consideration to the multiple aetiological theories which have been put forward. The historical findings are related to the descriptive criteria for pica in DSM–III–R and Draft ICD–10.

scholarly journals Enteric Duplication Cyst Located at the Posterior Tongue: A Rare Case Report and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
Bircan Savran ◽  
Cuneyt Kucur ◽  
Cengiz Kocak ◽  
Isa Ozbay ◽  
Mehmet Huseyin Metineren ◽  
...  
Keyword(s):  
Rare Case ◽  
Cystic Lesion ◽  
Contralateral Side ◽  
Duplication Cyst ◽  
Early Postoperative Period ◽  
Feeding Problems ◽  
Feeding Difficulties ◽  
Rare Case Report ◽  
Enteric Duplication ◽  
Posterior Tongue

The lingual localization of an enteric duplication is extremely rare but may present with respiratory and feeding problems that require emergency intervention. A 7-month-old boy was brought to our clinic with feeding difficulties and tongue swelling. Physical examination showed a cystic lesion located near the left side of the tongue base that caused tongue protrusion to the contralateral side. During surgery, a 3-cm diameter opaque thick-walled cyst was found to be very closely adherent to the base of tongue, which was excised in its entirety. Following surgery, the patient fed during the early postoperative period and no complications were observed other than hypersalivation. On histological examination, a cystic lesion lined with intestinal mucosa and goblet cells was found. We present the rare case of a duplication cyst of the posterior tongue, with a literature review.

scholarly journals Laser: The torch of freedom for ankyloglossia

2014 ◽  
Vol 47 (03) ◽  
pp. 418-422 ◽  
Author(s):  
Shivlal L. Vishnoi ◽  
Sarath Chandran ◽  
Gaurav V. Bakutra ◽  
Keyword(s):  
Congenital Anomaly ◽  
Minimally Invasive ◽  
Social Issues ◽  
Speech Disorders ◽  
Treatment Modalities ◽  
Feeding Difficulties ◽  
Periodontal Tissues ◽  
Benefit Evaluation ◽  
Minimally Invasive Dentistry ◽  
Structure Laser

ABSTRACTThe tongue is an important oral structure that affects speech, position of teeth, periodontal tissues, nutrition, swallowing, nursing, and certain social activities. Ankyloglossia or tongue-tie, is a congenital anomaly characterized by an abnormally short lingual frenulum, which restricts mobility of the tongue. Though the ankyloglossia is not a serious condition, it may lead to a host of problems including infant feeding difficulties, speech disorders, and various mechanical and social issues related to the inability of the tongue to protrude. Hence, management of ankyloglossia should be considered at any age considering the risk-benefit evaluation. Tongue being highly vascular and mobile structure, laser-assisted lingual frenectomy is the simplest, safest and less traumatic of all the treatment modalities available, with most promising results in minimally invasive dentistry. Here, a case of ankyloglossia is reported with its management by diode laser.

scholarly journals NR2F1 database: 111 variants and 83 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome

2021 ◽  
Author(s):  
Benjamin Billiet ◽  
Patrizia Amati-Bonneau ◽  
Valérie Desquiret-Dumas ◽  
Khadidja Guehlouz ◽  
Dan Milea ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Autosomal Dominant Disorder ◽  
Feeding Difficulties ◽  
Pathogenic Variants ◽  
Neurological Features ◽  
Clinical Description ◽  
Nuclear Receptor Subfamily

Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability, but with a clinical presentation which appears to be multifaceted. We created the first public locus-specific database (LSDB) dedicated to NR2F1. All variants and clinical cases reported in the literature, as well as new unpublished cases, were integrated into the database using standard nomenclature to describe both molecular and phenotypic anomalies. We subsequently pursued a comprehensive approach based on computed representation and analysis suggesting a refinement of the BBSOAS clinical description with respect to neurological features and the inclusion of musculoskeletal hypotonia and intestinal signs with feeding difficulties. This database is fully accessible for both clinician and molecular biologists and should prove useful in further refining the clinical synopsis of NR2F1 as new data is recorded.

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