Rehabilitation in a rare case of coffin-siris syndrome with major cognitive and behavioural disorders

2021 ◽  
pp. 1-8
Author(s):  
Donatella Saviola ◽  
Katia De Gaetano ◽  
Romina Galvani ◽  
Sara Bosetti ◽  
Paola Abbati ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Corpus Callosum ◽  
Genetic Disease ◽  
Rare Case ◽  
Recurrent Infections ◽  
Behavioural Disorders ◽  
Cognitive Behavioural ◽  
The Family ◽  
Family Integration

BACKGROUND: Coffin-Siris syndrome is a rare genetic disease with heterozygous variants in the ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1 or SOX11 genes. It may manifest with somatic anomalies, deafness, urogenital malformations, recurrent infections, mental retardation, speech deficit, agenesis of the corpus callosum, convulsions, hypotonia, developmental delay, and scoliosis. CASE REPORT: A 14-year-old boy with Coffin-Siris syndrome due to variants in the ARID1A gene was referred to the clinic. His rehabilitation over a 9-year period was described. The problem of assessment and the approach to rehabilitation was discussed, enabling a progressive remodelling of the cognitive-behavioural disorders that most hindered the possibility of his acquiring new skills and achieving social and family integration. CLINICAL REHABILITATION: A protracted, customised, multiprofessional rehabilitation approach, centred on realistic functional objectives, implemented with the direct involvement of the family and school, was the only way to achieve the maximum independence and social and family integration permitted by his residual disability.

Scurvy: A Case Report

2021 ◽  
Vol 2 (1) ◽  
pp. 78-83
Author(s):  
Eka Sri Rahayu ◽  
Mardy Pangarungan
Keyword(s):  
Case Report ◽  
Vitamin E ◽  
Vitamin C ◽  
Laboratory Test ◽  
Computer Tomography ◽  
Rare Case ◽  
Behavioural Disorders ◽  
Vitamin C Deficiency ◽  
Great Pain ◽  
Normal Laboratory

A B S T R A C TScurvy is a rare case found in many countries, but it is often found in refugeeareas, especially in Africa. Vitamin C deficiency varies based on season and occursmore in men with age. The purpose of this research is to avoid misdiagnosis so thatit can be a reference in the field of medicine to diagnose and provide management onscurvy. This prospective research was conducted with one sample of research.Observation had been carried out for two months, starting at one month after thepatient was suspected with the diagnosis of scurvy. Computer Tomography (CT) Scanlumbosacral to pelvic results were normal. Laboratory test of HB result was 9.5 g/dl,in which MCV was 63.2 fL, MCH was 20.3 pg, and MCHC was 32.1 g/dl. Scurvytreatment in the first visit was 3x1 tablets vitamin C, 3x5 ml ibuprofen Syr, andphysiotherapy. The results were that the patient still suffered swollen and bleedinggums, but the pain no longer existed, pale, behavioural disorders, unable to walk,and pain in both knees. After the second visit, the child got therapy of 4x50 mg vitaminC, 1x1 tablets vitamin B12, 1x150 IU vitamin E, 1x1 tablets cavit D3, andphysiotherapy. After two weeks of treatment, there were no complaints of swelling,painful or bleeding gums. The child could straighten her legs, but she was still unableto walk due to the trauma of feeling great pain while walking. Special attention isrequired to diagnose appropriately so the doctor can minimize and preventcomplications.

scholarly journals Preauricular Sinus as Recurrent Postaural Abscess: A Rare Presentation

2014 ◽  
Vol 6 (2) ◽  
pp. 84-86 ◽  
Author(s):  
Sharanabasappa Rudragouda Malipatil
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Rare Case ◽  
Sinus Tract ◽  
Recurrent Infections ◽  
Rare Presentation ◽  
Treatment Patient ◽  
Preauricular Sinus ◽  
Rare Case Report ◽  
Surgical Extirpation

ABSTRACT Preauricular sinus (PAS) is not uncommon congenital anomaly. It is usually asymptomatic and does not require any treatment. Patient presenting with discharge, recurrent infections and preauricular abscess will require management with antibiotics and surgical extirpation of the sinus tract. Here, it is a rare case report of PAS presenting as a recurrent postaural abscess. How to cite this article Malipatil SR. Preauricular Sinus as Recurrent Postaural Abscess: A Rare Presentation. Int J Otorhinolaryngol Clin 2014;6(2):84-86.

scholarly journals Preauricular Sinus as Recurrent Postaural Abscess: A Rare Presentation

2015 ◽  
Vol 7 (1) ◽  
pp. 26-28
Author(s):  
Sharanabasappa Rudragouda Malipatil
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Rare Case ◽  
Sinus Tract ◽  
Recurrent Infections ◽  
Rare Presentation ◽  
Treatment Patient ◽  
Preauricular Sinus ◽  
Rare Case Report ◽  
Surgical Extirpation

ABSTRACT Preauricular sinus (PAS) is not uncommon congenital anomaly. It is usually asymptomatic and does not require any treatment. Patient presenting with discharge, recurrent infections and preauricular abscess will require management with antibiotics and surgical extirpation of the sinus tract. Here, it is a rare case report of PAS presenting as a recurrent postaural abscess.

scholarly journals Scurvy: A Case Report

2021 ◽  
Vol 2 (1) ◽  
pp. 75-81
Author(s):  
Eka Sri Rahayu ◽  
Mardy Pangarungan
Keyword(s):  
Case Report ◽  
Vitamin E ◽  
Vitamin C ◽  
Laboratory Test ◽  
Computer Tomography ◽  
Rare Case ◽  
Behavioural Disorders ◽  
Vitamin C Deficiency ◽  
Great Pain ◽  
Normal Laboratory

Scurvy is a rare case found in many countries, but it is often found in refugeeareas, especially in Africa. Vitamin C deficiency varies based on season and occursmore in men with age. The purpose of this research is to avoid misdiagnosis so thatit can be a reference in the field of medicine to diagnose and provide managementon scurvy. This prospective research was conducted with one sample of research.Observation had been carried out for two months, starting at one month after thepatient was suspected with the diagnosis of scurvy. Computer Tomography (CT)Scan lumbosacral to pelvic results were normal. Laboratory test of HB result was9.5 g/dl, in which MCV was 63.2 fL, MCH was 20.3 pg, and MCHC was 32.1 g/dl.Scurvy treatment in the first visit was 3x1 tablets vitamin C, 3x5 ml ibuprofen Syr,and physiotherapy. The results were that the patient still suffered swollen andbleeding gums, but the pain no longer existed, pale, behavioural disorders, unableto walk, and pain in both knees. After the second visit, the child got therapy of 4x50mg vitamin C, 1x1 tablets vitamin B12, 1x150 IU vitamin E, 1x1 tablets cavit D3,and physiotherapy. After two weeks of treatment, there were no complaints ofswelling, painful or bleeding gums. The child could straighten her legs, but she wasstill unable to walk due to the trauma of feeling great pain while walking. Specialattention is required to diagnose appropriately so the doctor can minimize andprevent complications.

scholarly journals Ingestion of Partial Denture after General Anesthesia Induction and Ventılation: A Rare Case Report

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Hakan Akelma ◽  
Fikret Salik ◽  
Ömer Başol ◽  
Hüseyin Bilge ◽  
Akif Yıldırım ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
General Anesthesia ◽  
Rare Case ◽  
Poor Quality ◽  
Anesthesia Induction ◽  
Partial Denture ◽  
Rare Case Report ◽  
Fixed Prosthesis ◽  
Prolongation Of Life

The swallowing of dentures during general anaesthesia is a significant problem for anesthesiologists. It is seen more often in patients with psychiatric disorders, mental retardation, alcoholism, or poor quality dentures. It has become an important issue for anesthesiologists preoperatively due to the increase in the proportion of dentures associated with prolongation of life. In elderly, the use of partial fixed prosthesis increases and the risk of swallowing dentures is increased. In this case report, it was presented that the denture was swallowed spontaneously before intubation while the patient was ventilated preoperatively.

Pontine and extra-pontine osmotic demyelination syndrome: Case report

2021 ◽  
Vol 2 (3) ◽  
Author(s):  
Eduardo dos Santos Sousa ◽  
◽  
Felipe Teijeiro Cabral ◽  
Annelise Akemi Higa Lee ◽  
Francisco Tomaz Meneses de Oliveira ◽  
...  
Keyword(s):  
Case Report ◽  
Substantia Nigra ◽  
Corpus Callosum ◽  
Rare Case ◽  
Osmotic Demyelination Syndrome ◽  
Osmotic Demyelination ◽  
Level Of Consciousness ◽  
Sodium Replacement ◽  
Current Guidelines ◽  
Global Reduction

Osmotic demyelination syndrome is a rare disease, clinically presented as a global reduction in strength, tetraparesis, variations in the level of consciousness, and its content, and comatose status, associated with rapid variances in serum sodium levels (whether hyponatremia or hypernatremia). The neuroimaging findings are mainly in the pontine region, but currently the number of reports of extrapontine involvement has increased, typically with lesions in the topography of the thalamus, cerebellum, midbrain (substantia nigra), corpus callosum and hypothalamus. We display a rare case of pontine and extra-pontine involvement, even after the sodium replacement protocols of the current guidelines.

PERSISTENT EMBRYONIC FALCINE SINUS PRESENTING AS ATRETIC PARIETAL CEPHALOCELE: CASE REPORT

2021 ◽  
pp. 18-19
Author(s):  
Bhavani P.N ◽  
Shivanand V.Patil ◽  
Ravi Kumar
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Brain Tissue ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Rare Case ◽  
Grey Matter ◽  
Vein Of Galen ◽  
Skull Defect ◽  
Falcine Sinus

Cephaloceles are congenital neural tube defect causing herniations of intracranial structures (dura, brous tissue and dysplastic brain tissue) through a skull defect. Frequently associated with other intracranial anomalies like grey matter heterotopia, Vein of Galen malformations, Ventriculomegaly, Walker–Warburg syndrome, lobar holoprosencephaly, Dandy–Walker syndrome, hypogenesis of the corpus callosum, interhemispheric cysts, microphthalmia, and retro-ocular cysts.We are presenting a rare case of persistent embryonic sinus presenting with parietal cephalocele.

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