Early Motor Unit Disease Masquerading as Psychogenic Breathy Dysphonia: A Clinical Case Presentation

1971 ◽  
Vol 36 (1) ◽  
pp. 115-124 ◽  
Author(s):  
Arnold E. Aronson
Keyword(s):  
Differential Diagnosis ◽  
Myasthenia Gravis ◽  
Motor Unit ◽  
Clinical Features ◽  
Muscular Strength ◽  
Clinical Case ◽  
Neurologic Disease ◽  
Voice Change ◽  
Case Presentation ◽  
Voice Changes

This is a study of a 20-year-old girl who developed mild, breathy dysphonia which, because of its nonspecificity, had been previously diagnosed as psychogenic; in actuality her voice change was a sign of early myasthenia gravis. The case is presented to alert the clinician to the fact that voice changes can be one of the first and only signs of early neurologic disease. Differential diagnosis requires careful laryngologic, psychiatric, speech, and neurologic examinations. In this instance, the laryngologic and psychiatric examinations were nonproductive, but the speech examination elicited a marked increase in breathiness, hypernasality, and articulatory imprecision as the consequence of prolonged, effortful speaking. This finding, along with the neurologist’s demonstration of an increase in muscular strength by means of injecting edrophonium chloride (Tensilon) led to the diagnosis of myasthenia gravis. A summary of the incidence, clinical features, methods of examination, and treatment of this disease follow the case presentation.

scholarly journals CLINICAL CASE OF PALMOPLANTAR KERATODERMA TYPE UNNA-THOST

2017 ◽  
Vol 20 (3) ◽  
pp. 143-145
Author(s):  
Albina G. Pashinyan ◽  
L. I Ilienko ◽  
A. N Akopyan
Keyword(s):  
Differential Diagnosis ◽  
Clinical Features ◽  
Congenital Malformations ◽  
Clinical Case ◽  
Heterogeneous Group ◽  
Palmoplantar Keratoderma

Palmar-plantar keratoderma is a heterogeneous group of hereditary dermatosis, which can be independent diseases or combined with various congenital malformations, most of ectodermal origin. Approaches to differential diagnosis and clinical features of each form of this pathology are described. Keratoderma, Unna Toast genodermatosis belongs to the group, which is characterized by hyperkeratosis on the palms and soles without migration to other skin areas.

Upper Extremity Anomalies

2019 ◽  
pp. 203-210
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Valproic Acid ◽  
Differential Diagnosis ◽  
Upper Extremity ◽  
Clinical Case ◽  
Background Information ◽  
Amniotic Band ◽  
Case Presentation ◽  
Vascular Disruption ◽  
Common Causes ◽  
Malformation Syndromes

This chapter reviews background information about the incidence, epidemiology, genetics, and other anomalies associated with common congenital anomalies of the upper extremity. The discussion reviews the differential diagnosis of transverse, longitudinal (amelia, radial, ulnar), intercalary (phocomelia), and central (split hand/foot) defects of the radius and ulna and combined upper and lower extremity defects. The chapter summarizes common causes of upper extremity anomalies, including amniotic band disruption sequence, teratogenic agents (misoprostol, thalidomide, valproic acid), vascular disruption, chromosome anomalies, and Mendelian congenital malformation syndromes, and it gives recommendations for evaluation and management. A clinical case presentation features an infant with Holt–Oram syndrome.

Polydactyly

2019 ◽  
pp. 217-222
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Differential Diagnosis ◽  
Sex Ratio ◽  
Clinical Case ◽  
Renal Cysts ◽  
Recurrence Risk ◽  
Background Information ◽  
Case Presentation ◽  
Common Causes ◽  
Malformation Syndromes ◽  
Hands And Feet

This chapter reviews background information about the prevalence, sex ratio, genetics, recurrence risk and epidemiology of isolated and syndromic preaxial, postaxial and mesoaxial (central) polydactyly of the hands and feet. Various patterns of isolated and bilateral polydactyly and common associated malfomations (syndactyly, craniosynsostosis, GI anomalies, macrocephaly, mocrpcephaly, renal cysts) are described. The discussion on the differential diagnosis of polydactyly summarizes its common causes, including teratogenic agents, diabetic embryopathy, chromosome anomalies, and congenital malformation syndromes caused by Mendelian traits. It gives recommendations for evaluation and management. A clinical case presentation features an infant with tibial hypoplasia/aplasia with polydactyly (Werner mesomelic syndrome).

Macrocephaly and Megalencephaly

2019 ◽  
pp. 103-108
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Differential Diagnosis ◽  
Tuberous Sclerosis ◽  
Basal Cell ◽  
Noonan Syndrome ◽  
Clinical Case ◽  
Single Gene ◽  
Case Presentation ◽  
Basal Cell Nevus Syndrome ◽  
Single Gene Disorders ◽  
Nevus Sebaceous

This chapter reviews isolated and syndromic causes of macrocephaly and megalencephaly. The two terms are usually but not always interchangeable. The differential diagnosis of macrocephaly includes familial macrocephaly, chromosome duplications and deletions, metabolic disorders and complex somatic mosaic conditions including CLOVES, MCAP and MPPH. Single gene disorders with macrocephaly include those in the Noonan syndrome spectrum (RASopathies). Syndromes with hemimegalencephaly, including linear nevus sebaceous and tuberous sclerosis are briefly reviewed. Many syndromes with macrocephaly have associated overgrowth and are covered in the Overgrowth chapter as well, including Weaver, Sotos and Malan syndromes. A clinical case presentation features an infant with basal cell nevus syndrome.

scholarly journals First case report of dermatitis associated with Leporacarus gibbus in cat

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Mirabela Oana Dumitrache ◽  
Adriana Györke ◽  
Gianluca D’Amico ◽  
Viorica Mircean
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Case ◽  
Clinical Signs ◽  
Zoonotic Potential ◽  
Case Presentation ◽  
First Case ◽  
Skin Conditions ◽  
Pruritic Skin ◽  
Microscopy Examination

Abstract Background Leporacarus gibbus is a highly specific acarian parasitizing in rabbits, with a proven zoonotic potential. While the majority of cases of L. gibbus infestation are asymptomatic, several cases of pruritic cutaneous condition in both laboratory and pet rabbits were reported. Up to date, L. gibbus has not been linked with clinical signs in any other species than rabbits and humans. Case presentation This case report described the clinical case of a 14-month-old cat with a dermatitis linked to L. gibbus. Mites specimens were collected by brushing, followed by light microscopy examination and species identification. To the best of our knowledge, this is the first report of L. gibbus-related dermatitis in cat. Conclusions L. gibbus infestation should be considered as a possible differential diagnosis of pruritic skin conditions in cat.

A child with Pica. A case presentation

2017 ◽  
Vol 41 (S1) ◽  
pp. S449-S449
Author(s):  
M.D. Ortega Garcia ◽  
M.V. Marti Garnica ◽  
S. Garia Marin ◽  
C. Martinez Martinez ◽  
R. Gomez Martinez ◽  
...  
Keyword(s):  
Mental Health ◽  
Mental Illness ◽  
Differential Diagnosis ◽  
Clinical Case ◽  
Developmental Disorder ◽  
Toxic Substances ◽  
Single Test ◽  
Case Presentation ◽  
Blood Biochemical ◽  
Competing Interest

Description/clinical caseA. is a 10-year-old girl of Moroccan origin appearing in pediatric specialist of A.P repeatedly by unspecific stomachache, nausea and vomiting. After several visits to the same reason for consulting an exploratory interview alone with the patient in that regard that “sometimes when calms nervous scratching the walls and eating them” is performed. The mother says intrafamily difficulties. Information reported by the patient's mother confirms next visit also providing pictures on the wall of your room is returned. Referral to child and adolescent mental health is decided.Exploration/complementary testsThere is no single test for pica. It is carried out systematic blood, biochemical (iron, zinc, lead…) to assess toxic substances and nutritional levels. Abdominal Rx. Both normal.DiagnosisPica (F98.3).Differential diagnosisIngestion of nutrients can occur in the course of other mental disorders (for example, a pervasive developmental disorder, schizophrenia), mental retardation, in the Kleine–Levin syndrome… In these cases, should only be established an additional diagnosis of pica if the feeding behavior is sufficiently severe to warrant independent clinical attention.ConclusionsPica disorder has been studied by pediatricians, gynecologists, dermatologists, psychiatrists, psychologists, nutritionists, anthropologists, etc., which has been interpreted as a conduct disorder, food, mental illness, poverty, hunger… but really the cause it is unknown. Although morbidity and mortality is unknown and difficult to study, include poisonings, parasitosis and surgical abdomen as serious complications. Finally, like all other eating disorders, the overall management of this entity requires the coordinated intervention of various professionals.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Cannabinoid hyperemesis syndrome in the pregnant patient: clinical case and literature review

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Julien Flament ◽  
Nathan Scius ◽  
Henri Thonon
Keyword(s):  
Differential Diagnosis ◽  
Clinical Case ◽  
Pregnant Patient ◽  
Rapid Improvement ◽  
Case Presentation ◽  
Pregnancy And Childbirth ◽  
Cannabinoid Hyperemesis Syndrome ◽  
Return Home ◽  
Hot Baths ◽  
In Pregnancy

Abstract Background Cannabis use is on the rise. Several cases of cannabinoid hyperemesis syndrome, secondary to chronic cannabis intoxication, have been described worldwide, but few cases have described this entity in pregnant women. Case presentation We describe a 29-year-old pregnant patient that had consumed cannabis and experienced uncontrolled vomiting. The use of hot baths, the rapid improvement in symptoms, and results of complementary examinations suggested a diagnosis of cannabinoid hyperemesis syndrome. The patient could return home, and she continued her pregnancy and childbirth without peculiarities. Conclusion Cannabinoid hyperemesis syndrome should be considered in the differential diagnosis of vomiting in pregnancy. Consumption of cannabis must be systematically included in the anamnesis. However, it seems to be somewhat unacceptable socially or medically. Consumption must be stopped to manage symptoms.

scholarly journals Cannabinoid Syndrome in the Pregnant Patient: Clinical Case and Literature Review

2020 ◽  
Author(s):  
Julien Flament ◽  
Nathan Scius ◽  
Henri Thonon
Keyword(s):  
Differential Diagnosis ◽  
Literature Review ◽  
Clinical Case ◽  
Pregnant Patient ◽  
Rapid Improvement ◽  
Case Presentation ◽  
Pregnancy And Childbirth ◽  
Return Home ◽  
Hot Baths ◽  
In Pregnancy

Abstract Background:Cannabis use is on the rise. Several casesof cannabinoid syndrome, secondary to chronic cannabis intoxication, have been described worldwide, but few cases have described this entity in pregnant women. Case presentation: We describe a 29-year-old pregnant patient that had consumed cannabis and experienced uncontrolled vomiting. The use of hot baths, the rapid improvement in symptoms, and results of complementary examinations suggested a diagnosis of cannabinoid syndrome. The patient could return home and she continued her pregnancy and childbirth without peculiarities. Conclusion:Cannabinoid syndrome should be considered in the differential diagnosis of vomiting in pregnancy. Consumption of cannabis must be systematically included in the anamnesis. However, it seems to be somewhatunacceptable socially or medically. Consumption must be stopped to manage symptoms.

scholarly journals Cannabinoid Hyperemesis Syndrome in the pregnant patient: clinical case and literature review

2020 ◽  
Author(s):  
Julien Flament ◽  
Nathan Scius ◽  
Henri Thonon
Keyword(s):  
Differential Diagnosis ◽  
Clinical Case ◽  
Pregnant Patient ◽  
Rapid Improvement ◽  
Case Presentation ◽  
Pregnancy And Childbirth ◽  
Cannabinoid Hyperemesis Syndrome ◽  
Return Home ◽  
Hot Baths ◽  
In Pregnancy

Abstract Background Cannabis use is on the rise. Several cases of cannabinoid hyperemesis syndrome, secondary to chronic cannabis intoxication, have been described worldwide, but few cases have described this entity in pregnant women. Case presentation We describe a 29-year-old pregnant patient that had consumed cannabis and experienced uncontrolled vomiting. The use of hot baths, the rapid improvement in symptoms, and results of complementary examinations suggested a diagnosis of cannabinoid hyperemesis syndrome. The patient could return home and she continued her pregnancy and childbirth without peculiarities. Conclusion Cannabinoid hyperemesis syndrome should be considered in the differential diagnosis of vomiting in pregnancy. Consumption of cannabis must be systematically included in the anamnesis. However, it seems to be somewhat unacceptable socially or medically. Consumption must be stopped to manage symptoms.

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