Agnathia and Associated Malformations: A Case Report

An anomalous common trunk giving rise to bilateral intercostal arteries at multiple levels is exceedingly rare and its association with spinal filar AVF and low-lying cord has not been reported so far. Here, we report this uncommon anatomical variation in a 60-year-old male who presented with paraplegia and on imaging found to have low-lying spinal cord with filar AVF and venous congestive myelopathy and discuss its embryological basis and associated malformations. Although rare, interventional radiologists should be aware of this entity, as these trunks may be a major source of bleeding in patients with hemoptysis, and also may be involved in vital spinal cord supply.

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Congenital Cystic Adenomatoid Malformation Type 4 and Aneurysm of the Vein of Galen: A Rare Coincidence or Possibly Related Association

Pediatric and Developmental Pathology ◽

10.1007/s10024-003-2015-z ◽

2004 ◽

Vol 7 (3) ◽

pp. 268-272 ◽

Cited By ~ 2

Author(s):

Erdener Ozer ◽

Aydin Sanli ◽

Serhat Erbayraktar ◽

Cagnur Ulukus ◽

Ahmat Onen

Keyword(s):

Case Report ◽

Later Life ◽

Congenital Cystic Adenomatoid Malformation ◽

Vein Of Galen ◽

Associated Anomalies ◽

Cystic Adenomatoid Malformation ◽

First Case ◽

Embryonic Life ◽

Associated Malformations ◽

Related Association

As far as the prognosis is concerned, it is important to diagnose the exact type of congenital cystic adenomatoid malformation (CCAM) in order to exclude associated anomalies, as well as the risk of development of malignancies in later life. The frequency of associated malformations of CCAM type 4 is unknown. We report a 4-month-old boy with CCAM type 4 and aneurysmal malformation of the vein of Galen (AVG). Although AVG is the most frequent arteriovenous malformation during childhood, this is the first case report, to our knowledge, of CCAM type 4 in association with an anomaly. In addition, we speculate that the relation between CCAM type 4 and AVG appears to be more likely a possibly related association rather than a rare coincidence, as both malformations develop at the same stages of embryonic life, and pathogenetically, apoptosis play a significant role in both entities. However, further studies are needed to validate this speculation placing emphasis on the association of the two anomalies, otherwise a rare coincidence cannot be excluded.

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Antenatal diagnosis of omphalocele and spinal dysraphism: a possible OEIS complex

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20201949 ◽

2020 ◽

Vol 8 (5) ◽

pp. 1909

Author(s):

Dolly Khanna ◽

Karandeep S. Bhatti

Keyword(s):

Case Report ◽

Early Detection ◽

Early Pregnancy ◽

Neural Tube Defect ◽

Antenatal Diagnosis ◽

Spinal Dysraphism ◽

Structural Defects ◽

Cloacal Exstrophy ◽

Associated Malformations ◽

High Level

OEIS complex, which comprises of omphalocele, exstrophy bladder, imperforate anus and spinal dysraphism, is a rare disorder. The prognosis depends upon the severity of the structural defects. Survival depends on the extension of the cloacal exstrophy and the neural tube defect. The antenatal diagnosis in early pregnancy is very tough, and a high level of suspicion should be kept for the possibility of its existence, even only if omphalocele and spinal dysraphism are seen on a prenatal sonography. Authors present the case of a 33-year-old, G1P0 female, who on her prenatal routine sonography scan, was found to have a fetus with omphalocele and spinal dysraphism. Despite the repeated attempts to follow her up, she refused and hence the possibility of the presence of other associated malformations could not be ascertained. Considering the difficulty of antenatal diagnosis of OEIS complex and its associated mortality, the objective of this case report is to discuss the vital sonographic findings of OEIS, along with its etiology and prognosis, which can aid in its early detection and subsequently help parents to make a decision regarding the continuation of pregnancy.

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Misophonia: An Evidence-Based Case Report

American Journal of Audiology ◽

10.1044/2020_aja-19-00111 ◽

2020 ◽

Vol 29 (4) ◽

pp. 685-690

Author(s):

C. S. Vanaja ◽

Miriam Soni Abigail

Keyword(s):

Quality Of Life ◽

Case Report ◽

Case History ◽

Pure Tone ◽

Physiological Responses ◽

Evidence Based ◽

Management Option ◽

Pure Tone Audiogram

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.

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Intensive Stuttering Therapy With Telepractice Follow-up: A Case Study

Perspectives on Fluency and Fluency Disorders ◽

10.1044/ffd21.1.11 ◽

2011 ◽

Vol 21 (1) ◽

pp. 11-21 ◽

Cited By ~ 2

Author(s):

Farzan Irani ◽

Rodney Gabel

Keyword(s):

Case Report ◽

Therapeutic Intervention ◽

Intensive Therapy ◽

Positive Outcome ◽

Eclectic Approach

This case report describes the positive outcome of a therapeutic intervention that integrated an intensive, residential component with follow-up telepractice for a 21 year old male who stutters. This therapy utilized an eclectic approach to intensive therapy in conjunction with a 12-month follow-up via video telepractice. The results indicated that the client benefited from the program as demonstrated by a reduction in percent stuttered syllables, a reduction in stuttering severity, and a change in attitudes and feelings related to stuttering and speaking.

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A Tape-Recorded Therapy Method for Stutterers: A Case Report

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.3502.188 ◽

1970 ◽

Vol 35 (2) ◽

pp. 188-193 ◽

Cited By ~ 4

Author(s):

Maryann Peins ◽

Bernard S. Lee ◽

W. Edward McGough

Keyword(s):

Case Report

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The Use of Real-Time Visual Displays of Speech in the Training of a Profoundly Deaf, Nonspeaking Child: A Case Report

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.3603.397 ◽

1971 ◽

Vol 36 (3) ◽

pp. 397-409 ◽

Cited By ~ 10

Author(s):

Rachel E. Stark

Keyword(s):

Case Report ◽

Real Time ◽

Speech Production ◽

Behavior Problem ◽

Deaf Children ◽

Developmental Sequence ◽

Visual Displays ◽

Individual Instruction ◽

Academic Record ◽

Extract Information

Real-time amplitude contour and spectral displays were used in teaching speech production skills to a profoundly deaf, nonspeaking boy. This child had a visual attention problem, a behavior problem, and a poor academic record. In individual instruction, he was first taught to produce features of speech, for example, friction, nasal, and stop, which are present in vocalizations of 6- to 9-month-old infants, and then to combine these features in syllables and words. He made progress in speech, although sign language and finger spelling were taught at the same time. Speech production skills were retained after instruction was terminated. The results suggest that deaf children are able to extract information about the features of speech from visual displays, and that a developmental sequence should be followed as far as possible in teaching speech production skills to them.

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