Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

Oral manifestation and root canal therapy of the patient with mucopolysaccharidosis

Mucopolysaccharidosis (MPS) is an inherited metabolic disorder caused by a deficiency in enzymes that participate in the degradation of glycosaminoglycans (GAGs) such as heparin sulfate and dermatan sulfate. Left untreated, patients show progressive mental and physical deterioration due to deposition of GAGs in organs. Death often occurs due to cardiac or respiratory failure before patients reach their early twenties. MPS has several oral and dental manifestations. An enlarged head, short neck, and open mouth associated with a large tongue are major characteristics of MPS patients. Dental complications can be severe, including unerupted dentition, dentigerous cyst-like follicles, malocclusions, condylar defects, and gingival hyperplasia. A 21-year-old female patient with MPS was described in this article, with special emphasis on oral manifestations and dental treatment.

Medial-Vowel Writing Difficulty in Korean Syllabic Writing: A Characteristic Sign of Alzheimer's Disease

BACKGROUND AND PURPOSE: Korean-speaking patients with a brain injury may show agraphia that differs from that of English-speaking patients due to the unique features of Hangul syllabic writing. Each grapheme in Hangul must be arranged from left to right and/or top to bottom within a square space to form a syllable, which requires greater visuospatial abilities than when writing the letters constituting an alphabetic writing system. Among the Hangul grapheme positions within a syllable, the position of a vowel is important because it determines the writing direction and the whole configuration in Korean syllabic writing. Due to the visuospatial characteristics of the Hangul vowel, individuals with early-onset Alzheimer's disease (EOAD) may experiences differences between the difficulties of writing Hangul vowels and consonants due to prominent visuospatial dysfunctions caused by parietal lesions. METHODS: Eighteen patients with EOAD and 18 age-and-education-matched healthy adults participated in this study. The participants were requested to listen to and write 30 monosyllabic characters that consisted of an initial consonant, medial vowel, and final consonant with a one-to-one phoneme-to-grapheme correspondence. We measured the writing time for each grapheme, the pause time between writing the initial consonant and the medial vowel (P1), and the pause time between writing the medial vowel and the final consonant (P2). RESULTS: All grapheme writing and pause times were significantly longer in the EOAD group than in the controls. P1 was also significantly longer than P2 in the EOAD group. CONCLUSIONS: Patients with EOAD might require a higher judgment ability and longer processing time for determining the visuospatial grapheme position before writing medial vowels. This finding suggests that a longer pause time before writing medial vowels is an early marker of visuospatial dysfunction in patients with EOAD.

Neurodegenerative Disease and Speech Rehabilitation

Neurodegenerative diseases such as Parkinson's disease and amyotrophic lateral sclerosis may induce impairment of speech motor system. This review discusses the characteristics of dysarthria and symptom management for these conditions. Given the progressive nature of the neurodegenerative diseases, speech–language pathologists must be aware of appropriate augmentative and alternative communication equipment at the early stage of the disease course. Patients with neurodegenerative diseases can maintain functional communication with augmentative and alternative communication supports.

Quality Improvement Activities for Establishment of Intestinal Rehabilitation in Intestinal Failure Patients

PURPOSE: Intestinal failure (IF) is a complex clinical condition requiring a multi-disciplinary team approach. Our objective was to set up the treatment protocols and education documents for IF patients for development of intestinal rehabilitation programs in our hospital. METHODS: We compared the number of inpatients, length of hospital stay, mode of nutrition and calorie supply at discharge, and the frequency of blood transfusions before and after quality improvement of multidisciplinary activities, in order to evaluate the indirect effects of new protocols and training materials and for development of the intestinal rehabilitation system. RESULTS: We integrated eleven protocols for treatment and monitoring and seven educational materials for patients and caregivers. We compared indirect effects before and after the quality improvement activities. The number of IF patients hospitalized was reduced from 12 to 9. The mean days of hospital stay was decreased from 322 days to 73 days, the average number of monthly blood transfusions was also reduced from 1.8 to 0.3. In addition, the percentage of patients administered enteral nutrition and calories supplied was increased at discharge. CONCLUSION: By integrating IF protocols and education materials for IF patients, we found possible indirect effects of intestinal rehabilitation using a multidisciplinary team approach.

Parenteral Nutrition Support in Preterm Infants

Nutrition support for preterm infants is important to achievement of a postnatal growth rate optimizing normal fetal intrauterine growth rates and for improvement of patient outcome. However, sufficient nutrient delivery is not easy because of underlying illness. Although enteral nutrition (EN) is preferred over parenteral nutrition (PN), immature gastrointestinal features and inability to suck and swallow until 33 weeks' gestation disrupt. In patients with inability to tolerate adequate EN for more than 2 or 3 days, to optimize nutrition support and minimize complications, PN should begin within 24 hours after birth. The purpose of this study is to review the PN in preterm infants for the most appropriate nutritional support to meet each patient's requirement.

The Role of Subcortical Regions in Speech Production

BACKGROUND: Speech production requires accurate coordination of the speech musculature, and is dependent upon cooperation among cortical and subcortical structures. Multiple subcortical structures, including the basal ganglia, thalamus, and cerebellum, are involved in several parallel and segregated cortical-subcortical-cerebellum circuits. These circuits serve critical functions in integrating neural networks that modulate speech motor behaviors. Previous studies on speech disorders linked to subcortical lesions have been limited to perceptual evaluations of speech in patients with lesions. However, more recent studies using neuroimaging have confirmed the results of the lesion studies and provided further evidence of the important contributions of the subcortical structures to speech motor control. METHODS: We reviewed recent research literature on both behavioral and functional neuroimaging to reveal the role of subcortical structures in speech production. A review of this topic was conducted by searching the literature and electronic databases. RESULTS: Based on numerous articles, we found that the basal ganglia, thalamus, and cerebellum make different contributions to the modulation of speech-related variables. The cerebellum is the structure that is most strongly associated with speech rate, complexity, and timing. CONCLUSIONS: We conclude that the subcortical structures may play critical functions in speech production. The function of each structure involves the stimulation of cortical regions through the neural circuits and neurotransmitters. Thus, the function of the subcortical structures should be understood within the paradigm of neural networks.

Language Profiles of Transcortical Aphasia

BACKGROUND: The term "transcortical aphasia" is applied to primary lesions not involving the receptive and expressive language areas, but rather the areas connected to the association cortex. By definition, patients with transcortical aphasia can repeat what they have heard, but they have difficulty producing spontaneous speech or understanding speech. This paper reports the clinical features of stroke patients with transcortical aphasia to delineate the language profiles of its subtypes. METHODS: Eighty patients with stroke were divided into three subtypes of transcortical aphasia: transcortical sensory aphasia, transcortical motor aphasia, and mixed transcortical aphasia. A Korean version of the Western Aphasia Battery was used to compare the subdomains of language ability among the three groups. RESULTS: The patients showed a relatively preserved repetition ability, but the performances in repetition and generative naming, and the aphasia quotient were highest in the transcortical sensory aphasic group, followed by the transcortical motor aphasic and mixed transcortical aphasic groups. CONCLUSIONS: The present study provides detailed information on the language profiles of the three subtypes of transcortical aphasia, which can be differentiated based on the aphasia quotient and generative naming scores.