Case Study
Patient Demographics
The patient is an 11 year old female with a medical diagnosis of Down Syndrome, L side hemiplegic and Moya Moya disease, as week as a treatment diagnosis of lack of coordination and developmental delay. She currently presents with decreased self-care skills such as dressing, bathing, grooming, hygiene, toileting, feeding, and eating skills which is inhibiting her independence. Based on an age equivalent from the PEDI all skills, she is currently demonstrating ADL skills level between 2years and 2.5 years of age, this reflecting a deficit of greater than 9 years in skill. She has decreased fine motor and visual motor skills as well as decreased B hand and B upper extremity strength. Patient also presents with …show more content…
Down Syndrome is a common chromosomal translation and “approximately 1 in 660 births” are affected by the “trisomy of chromosome 21”. Classic features include “facial characteristics of upward slanted palpebral fissures, epicanthic folds, and a rounded, flattened face”. Children with this diagnosis often have “a palmar transverse crease, hypotonia, and mental retardation with a mean IQ of 50.2” (2) Patient was diagnosed with Moya Moya disease at age 7. Moya-Moya disease is a rare arterial occlusive disease. It affects the internal carotid artery and its branches and may lead to severe clinical presentations such as stroke and intracranial hemorrhage. Imaging techniques have a key role in management of Moya-Moya disease (Figure 1). They are necessary for diagnosis, choice of treatment, and follow-up. Less invasive imaging techniques have become efficient in hemodynamic studies but catheter angiography remains the diagnostic gold standard along with nuclear-medicine techniques (1). According to a study by the American Academy of Pediatrics, the etiology of Moya Moya must be accurately defined by further investigation and there is still question about whether it is a single disease entity or a response to a number of etiologies. What has been noted is that “Moya Moya disease is commonly correlated with acute hemiplegia and Down Sydrome” as in the case of the patient
Patient Demographics
The patient is an 11 year old female with a medical diagnosis of Down Syndrome, L side hemiplegic and Moya Moya disease, as week as a treatment diagnosis of lack of coordination and developmental delay. She currently presents with decreased self-care skills such as dressing, bathing, grooming, hygiene, toileting, feeding, and eating skills which is inhibiting her independence. Based on an age equivalent from the PEDI all skills, she is currently demonstrating ADL skills level between 2years and 2.5 years of age, this reflecting a deficit of greater than 9 years in skill. She has decreased fine motor and visual motor skills as well as decreased B hand and B upper extremity strength. Patient also presents with …show more content…
Down Syndrome is a common chromosomal translation and “approximately 1 in 660 births” are affected by the “trisomy of chromosome 21”. Classic features include “facial characteristics of upward slanted palpebral fissures, epicanthic folds, and a rounded, flattened face”. Children with this diagnosis often have “a palmar transverse crease, hypotonia, and mental retardation with a mean IQ of 50.2” (2) Patient was diagnosed with Moya Moya disease at age 7. Moya-Moya disease is a rare arterial occlusive disease. It affects the internal carotid artery and its branches and may lead to severe clinical presentations such as stroke and intracranial hemorrhage. Imaging techniques have a key role in management of Moya-Moya disease (Figure 1). They are necessary for diagnosis, choice of treatment, and follow-up. Less invasive imaging techniques have become efficient in hemodynamic studies but catheter angiography remains the diagnostic gold standard along with nuclear-medicine techniques (1). According to a study by the American Academy of Pediatrics, the etiology of Moya Moya must be accurately defined by further investigation and there is still question about whether it is a single disease entity or a response to a number of etiologies. What has been noted is that “Moya Moya disease is commonly correlated with acute hemiplegia and Down Sydrome” as in the case of the patient