Aceruloplasminemia Presents as Type 2 Diabetes Associated with Unexplained Microcytic Anemia: A Case Report / 임상당뇨병

Aceruloplasminemia (ACP) is a rare genetic disorder characterized by the triad of diabetes mellitus, retinal degeneration, and neurological symptoms. The patient’s clinical and biochemical features highlight substantial phenotype heterogeneity, contributing to the difficulties and delay in diagnosing ACP. We described a patient presenting with diabetes and abnormal iron studies due to ACP with typical neuroradiologic abnormality. A 56-year-old female patient visited our hospital with complaints of weight loss and anxiety. The leading cause of unintentional weight loss was uncontrolled diabetes. She was treated with oral hypoglycemic agents. Initial blood tests revealed unexplained microcytic anemia and high ferritin levels. We performed magnetic resonance imaging (MRI) of the brain to alleviate her excessive concerns about normal memory loss. We suspected that she might have ACP, based on the results of cortical pencil lining sign of the brain MRI and microcytic anemia with decreased ceruloplasmin (CP) and increased ferritin levels. Sequence analysis of the CP gene revealed homozygosity for c.2630 G>A, confirming the clinical diagnosis of ACP. The patient was started on deferasirox with progressive normalization of ferritin. In conclusion, unexplained anemia, often with microcytosis, diabetes, and typical neuroradiologic findings, is the best clue for early diagnosis of ACP.

Leigh Syndrome Mimicking Wernicke's Encephalopathy: A Case Report

Leigh syndrome or subacute necrotizing encephalomyelopathy is a rare, rapidly progressive neurodegenerative disorder. In general, symptoms such as shortness of breath and decreased cardiac function usually occur within 1 year of life. It is a serious disease with a mortality rate of 75% in 2–3 years. The cause of Leigh syndrome is DNA mutation. Approximately 75% of patients have nuclear DNA mutations while 25% have mitochondrial DNA mutations. Clinical symptoms vary depending on the affected brain area. Neuroimaging plays an important role in diagnosing patients with Leigh syndrome. Late-onset Leigh syndrome is rarer and progresses more slowly compared to the classic form. Here, we report a case of late-onset Leigh's syndrome mimicking Wernicke's encephalopathy.

Delayed Post-Hypoxic Leukoencephalopathy Induced by an Overdose with Fentanyl Patches: A Case Report

Fentanyl intoxication has occasionally been reported since fentanyl patches became available for medical use. Delayed post-hypoxic leukoencephalopathy is a complication of hypoxia. However, its neuropsychiatric symptoms can be delayed, and it can progress to leukoencephalopathy even after full recovery from coma due to acute intoxication. Herein, we report a case of fentanyl intoxication in a 65-year-old man who was presented to the hospital because of unconsciousness for 13 hours after using ten fentanyl patches simultaneously. Initial brain CT findings were non-specific. Twenty days later, delayed neuropathologic symptoms manifested, and MRI showed bilaterally symmetrical, heterogeneous, confluent high signal intensities on T2-weighted/fluid attenuated inversion recovery MRI in the cerebral white matter with diffusion restriction. This was followed by rapid exacerbation of neuropathological symptoms with diffuse severe cerebral atrophy over 1 year.

Brain MRI Findings of the Cri-Du-Chat Syndrome: A Case Report and Summary

Cri-du-chat syndrome is a rare genetic disorder in which the patient presents with a characteristic high-pitched monotonous cry and recurrent aspiration pneumonia, attributed to abnormalities in the larynx, epiglottis, and nervous system. The most prominent brain MRI findings are the presence of pontine and cerebellar hypoplasia, which primarily involve posterior cranial fossa structures. Although atrophy of supratentorial structures were also a common radiological finding, it was considered to be a secondary change due to pontine hypoplasia. Here, we present the case of a three-month-old patient presenting with cri-du-chat at our institution. The patient also showed the presence of prominent pontine hypoplasia similar to previously reported cases; however, contrary to other cases, there was a general delayed myelination of brain instead of decreased myelination of anterior limb of internal capsule. Since the larynx, pons, and cerebellum all originated from similar notochord level, which suggests anomaly in early stage of development, laryngeal, and brain anomaly characteristically observed in the cridu- chat syndrome.

Clinical and Radiological Findings of Discogenic Low Back Pain Confirmed by Automated Pressure-Controlled Discography

OBJECTIVE: Few studies on the clinical spectrum of automated pressure-controlled discography (APCD)-defined positive discs have been reported to date. Thus, the present study was undertaken to analyze clinical parameters critical for diagnosis of discogenic pain and to correlate imaging findings with intradiscal pressures and pain responses in patients with APCD-positive discs. METHODS: Twenty-three patients who showed APCD-positive discs were selected for analysis. CT discogram findings and the degrees of nuclear degeneration seen on MRI were analyzed in comparison to changes of intradiscal pressure that provoked pain responses; and clinical pain patterns and dynamic factors were evaluated in relation to pain provocation. RESULTS: Low back pain (LBP), usually centralized, with diffuse leg pain was the most frequently reported pattern of pain in these patients. Overall, LBP was most commonly induced by sitting posture, however, standing was highly correlated with L5/S1 disc lesions (p < 0.01). MRI abnormalities were statistically correlated with grading of CT discogram results (p < 0.05); with most pain response observed in CT discogram Grades 3 and 4. Pain-provoking pressure was not statistically correlated with MRI grading. However, it was higher in Grade 3 than Grade 4. CONCLUSION: APCD-positive discs were demonstrated in patients reporting centralized low back pain with diffuse leg pain, aggravated by sitting and standing. MRI was helpful to assess the degree of nuclear degeneration, yet it could not guarantee exact localization of the painful discs. APCD was considered to be more useful than conventional discography for diagnosis of discogenic pain.

Primary Cutaneous Meningioma on the Scalp of an Infant: A Case Report

During childhood, meningioma is an uncommon tumor, and in infants, extracranial meningioma is very rare. We report a case of primary cutaneous menigioma occurring on the scalp of a ten-month-old girl.

Radiologic Findings of Endodermal Sinus Tumor of the Ovary

PURPOSE: To evaluate the radiologic features of endodermal sinus tumor of the ovary. MATERIALS AND METHODS:The radiologic findings of eight patients with pathologically-proven endodermal sinus tumor of the ovary wereretrospectively evaluated for bilaterality, size, margin, architecture, septa, local invasion, distant metastasis,ascites and lymphadenopathy ; serum alpha-FP was also evaluated. RESULTS: All endodermal sinus tumors were unilateralwith irregular septa and ascites ; the longest diameter was 7-18(mean, 12.6)cm. Four of eight tumors had smoothmargins and four, lobulated. Four were predominantly cystic in internal architecture, one was purely cystic, andthree were predominantly solid. There was local invasion or distant metastasis in three patients, andretroperitoneal lymphadenopathy in one ; in seven cases, alpha-FP level was more than 1.000ng/ml. CONCLUSION: Endodermal sinus tumors of the ovary appeared as nonspecific large complex abdominal masses and it was difficultto differentiate them from other malignant ovarian tumors. This tumor should be included in the differentialdiagnosis of a large complex abdominal mass in girls and young women, especially in patients with a predominantlycystic mass and markedly elevated serum alpha-FP.

CT Findings in Differential Diagnosis of Benign and Malignant Parotid Tumors

PURPOSE: To evaluate CT findings which may help differentiate benign from malignant parotid tumors. MATERIALS AND METHODS: The CT findings of seventy-one cases with surgically-proven parotid tumors were retrospectively analysed for size, location, margin, internal density, adjacent tissue plane and lymphadenopathy. RESULTS: The margin of the mass was smooth and sharp in most benign tumors (89.5%), and irregular or indistinct in twelve which were malignant (75%, p<0.01). With regard to internal density, 70.2% of benign tumors were homogeneous (similar to muscle) and 81.3% of malignant tumors were heterogeneous (p<0.01). When analysing low density patterns within the mass, focal low densities in benign tumors (11/17) and diffuse or scattered multifocal low densities in those which were maligant (8/13) were frequently seen. Three malignant tumors invaded adjacent muscles, the parapharyngeal space, and bones, each in one case, and twelve malignant and one benign tumor infiltrated the adjacent fascia or subcutaneous fat layer. In five patients with a malignant tumor, obliteration by the mass of the fat plane between the mastoid tip and styloid process was noted, suggesting facial nerve invasion, while in three cases of malignancy, lymphadenopathy greater than 1cm was seen. CONCLUSION: In differentiating malignant and benign parotid tumors, the presence of irregular or indistinct margin of the mass, and invasion of adjacent structures, are important. Lymph node enlargement greater than 1cm and diffuse internal low densities, which may suggest necrosis or cystic change were also helpful in differential diagnosis.