scholarly journals Gilles de la Tourette Syndrome—A Case Report from Guyana in South America

1992 ◽  
Vol 5 (1) ◽  
pp. 39-41 ◽  
Author(s):  
V. Eapen ◽  
M. M. Robertson

A case of the Gilles de la Tourette syndrome from Guyana in South America is presented. The patient had a positive family history as well as coprolalia, echolalia, and attention deficit disorder with hyperactivity. The family history and cross-cultural similarity emphasise the biological factors in the aetiology of the syndrome.

1995 ◽  
Vol 8 (2) ◽  
pp. 75-80 ◽  
Author(s):  
F. Micheli ◽  
M. Gatto ◽  
O. Gershanik ◽  
A. Steinschnaider ◽  
M. Fernandez Pardal ◽  
...  

A series of 75 cases of Gilles de la Tourette syndrome (GTS) from Argentina, whose ages ranged from 6 to 55 with a mean of 20.02, were evaluated to compare findings with those reported for other countries. Mean age at onset was 7.44 years and mean overall duration of symptoms was 12.58 years; 6.7% of cases were mild, 49% moderate and 44.3% severe. Most frequent presenting motor tics were excessive blinking in 41 followed by head jerking in 16 and eye winking in six, while phonic tics included coprolalia in 28.0%, echolalia in 17.5% and palilalia in 10.8%. Abnormal perinatal events were reported in 40.5%, while positive family history for tics was present in 26.66%. Obsessive–compulsive behaviour was evident in 66% and attention deficit disorder in 16% of cases. Self-injurious behaviour comprised onychophagia in 28 patients, lip-biting in seven and self-slapping in eight cases. Almost half of our patients were initially interpreted as having a psychogenic disorder indicating that GTS in Argentina is most likely underdiagnosed. It may be concluded that the overall pattern of GTS is not dissimilar to that described for European, Asian and American populations, thus highlighting the previously recognized cross-cultural uniformity.


1991 ◽  
Vol 158 (3) ◽  
pp. 416-419 ◽  
Author(s):  
Mary M. Robertson ◽  
M. R. Trimble

In a cohort of five patients from the Middle East with the Gilles de la Tourette syndrome, family history of a tic disorder or the Gilles de la Tourette syndrome was positive in three cases. In one of these there was a multiply affected pedigree spanning six generations. The phenomenology of the syndrome is the same as that described in Western reports. The familial pattern of inheritance and cross-cultural similarity emphasise the biological factors in the aetiology of the syndrome.


2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
C. Silva ◽  
C. Nunes

Introduction:The association between tics, epilepsy and obsessive-compulsive symptoms, is still little explored in literature.Case report:The authors describe case of a male patient, 25 years old, with some obsessive personality traits and with the appearance of simple multiple tics, at 7-8 years old. The tics were vocal and motor, particularly facial and worsen with anxiety. Of the personal history is highlighted the existence of repetitive tonsilitis and in the family history the presence of tics in 3 paternal first cousins. This patient started only consultation of Neurology in 2003 and was medicated with haloperidol 1 mg / day. Already in 2007 it was triggered absence crisis, so that after additional study (EEG and MRI) and detection of focal paroxysmal activity in the left fronto-temporal region, the patient was medicated with levetiracetam 1000 mg / day. Currently holds the following therapy: levetiracetam 1500 mg / day, clonidine 0225 mg / day and buspirone 30 mg / day, with clinical improvement occurred.Conclusions:This patient on one hand, presents DSM-IV-TR (2001) diagnostic criteria for Gilles de la Tourette syndrome and on the other hand, criteria for the diagnosis of fronto-temporal epilepsy. It is also relevant the patient"s family history, that is consistent with the high risk of Tourette Syndrome in the first degree relatives.


2021 ◽  
Vol 6 (2) ◽  
pp. 101-107
Author(s):  
O. I. Matsyura ◽  
◽  

Food hypersensitivity is a reaction to the food consumed, regardless of the pathogenetic mechanisms that cause the symptoms. It is an actual and controversial problem in pediatric practice. Nowadays there is an active search for the causes of disease progression, a large role is given to the study of genetic and external factors (food, environmental, social). This disease arises many questions due to the similarity of the clinical representation in different kinds of food hypersensitivity and in different pathogenetic mechanisms, which are involved. The purpose of the study is to perform the analysis of factors, which cause appearance of food hypersensitivity in toddlers. Materials and methods. A study of the number of children with food intolerance was conducted using a specially compiled questionnaire. Thus, 4,500 questionnaires were distributed in pre-school and medical establishments to question parents. Results and discussion. Analysis of 3,214 questionnaires was conducted, which enabled to obtain information from parents on anamnesis and living conditions of toddlers. Values of 56 factors were analyzed, calculating correlation coefficients with a formation of food hypersensitivity for each of them. Statistical analysis allowed distinguishing 15 signs among these factors, which significantly correlated with the formation of food hypersensitivity in young children. The investigation enabled not only to detect factors that affect formation of food hypersensitivity in young children, but also to suggest a mathematical model of individual calculation of risk factors for this pathology. Data of conducted mathematical analysis can be used for elaboration of a complex of prophylaxis measures on development of food hypersensitivity in toddlers. Conclusion. The formation of hypersensitivity to cow's milk in children is provoked by the presence of contact reactions in the child, adverse reactions after medication, positive family history (bronchial asthma in relatives, skin diseases in parents (father and / or mother)), smoking in the family, living in the city; at the same time, preventive factors are living in an apartment, in a new building, in a dry apartment. The formation of food hypersensitivity in young children is generally provoked by a positive family history (bronchial asthma, hay fever, urticaria, diseases of the stomach and duodenum in relatives, skin diseases in parents), smoking in the family; frequent consumption of food in a mass catering points; living in the city plays a preventive role


PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.


2021 ◽  
Vol 10 (9) ◽  
pp. 205846012110432
Author(s):  
Manuela Tomforde ◽  
Heidi Kupsch ◽  
Andreas Christe ◽  
Mathias Sturzenegger ◽  
Manfred Essig

Distal aortic compression of the lower esophagus with consecutive dilatation of the proximal esophagus was first described in the literature in 1932. Here, the authors describe the case of a 66 year-old male complaining of gastroesophageal reflux. Due to a positive family history of carcinoma of the esophagus and compression of the dorsal esophagus during an esophageal barium swallow test, further tests were performed. Endoscopy and CT exam revealed a dilated esophagus due to compression of a crossing aorta. Because of mild symptoms and the absence of dysphagia, no further treatment was necessary except for the use of a proton pump inhibitor and recommended follow-ups every one to two years.


2013 ◽  
Vol 127 (11) ◽  
pp. 1143-1144 ◽  
Author(s):  
L D Landegger ◽  
M S Cohen

AbstractIntroduction:The exact aetiology of congenital cholesteatoma, the less common form of this destructive disease, is still under debate.Case report:A two-year-old boy was referred to paediatric otolaryngology with persistent, bloody, left-sided otorrhoea refractory to oral and ototopical antibiotics. Prior to its onset at age 16 months, all ear examinations on the affected side were normal. Physical examination, imaging with computed tomography and eventual tympanomastoidectomy revealed extensive cholesteatoma. The extent of the disease, age at onset of symptoms and absence of otological disease before initial presentation suggested the diagnosis of congenital cholesteatoma. Review of the family history revealed that the patient's older brother had undergone tympanomastoidectomy for a small, well-encapsulated, mesotympanic congenital cholesteatoma at two years of age.Discussion:This case joins a single, previous report describing congenital cholesteatoma in multiple family members, suggesting that in some cases, hereditary factors may play a role in the formation of the disease.


2017 ◽  
Vol 19 (6) ◽  
pp. 690-695 ◽  
Author(s):  
Esther B. Dupépé ◽  
Daxa M. Patel ◽  
Brandon G. Rocque ◽  
Betsy Hopson ◽  
Anastasia A. Arynchyna ◽  
...  

OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.


Author(s):  
Toshimasa Nakada

An epidemiological study showed that a positive family history of Kawasaki disease (KD) was a risk factor for intravenous immunoglobulin (IVIG) therapy resistance, coronary artery lesions (CALs), and KD recurrence. However, real-world outcomes of KD patients with a family history remain unclear. The objective of this study was to elucidate the outcomes of KD patients with a family history in the era of 2 g/kg IVIG therapy. This retrospective study included data from 201 KD patients who underwent acute-phase treatment from January 2009 to June 2020, with 184 (91.5%) receiving 2 g/kg IVIG therapy. The patients were divided into 13 (family group) with and 188 (nonfamily group) without a family history of KD. The rates of IVIG resistance (8.3% vs. 22.1%, P = 0.315), rescue therapy (8.3% vs. 12.8%, P = 1.000), CALs (0.0% vs. 2.7%, P = 1.000), and KD recurrence (0.0% vs. 3.2%, P = 1.000) were similar between the family and nonfamily groups.


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