Evaluation of Substantia Nigra morphology in Parkinson's Disease.

In the elderly population, Parkinson's Disease (PD) is the second most common neurodegenerative disorder and is associated with morphological changes in the basal ganglia, especially the substantia nigra (SN). This study aimed to evaluate the volume and signal intensity (SI) of SN using Magnetic Resonance Imaging (MRI) to detect structural changes and investigate the relationship between the onset side and disease severity of PD. Clinical features and imaging data of 58 patients with PD were retrospectively analyzed from their medical records. Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences of 3 Tesla (T) MRIs were used for the measurements. The right and left SN volumes and SI measurements were calculated in duplicate by 2 blinded and qualified neuroradiologists. The side of disease onset, disease duration, levodopa equivalent daily dose, Movement Disorder Society-sponsored Unified Parkinson Disease Rating Scale (MDS-UPDRS III) motor score, and modified Hoehn and Yahr (H&Y) scale scores were recorded and compared with SN volume and SI measurements. No statistically significant difference was found between the disease onset side and contralateral SN volume or SI measurements (P > .05). Despite high inter- and intra-rater reliability rates, there was no significant difference in the volume and SI of the contralateral SN according to H&Y stages (P > .05). Furthermore, SN volume and SI measurements were not significantly correlated with disease duration and MDS-UPDRS III motor score (P > .05). SN volume and SI values measured using axial FLAIR 3T MRI are not correlated with the side of onset or disease severity in PD. New imaging methods are required to detect preclinical or early-stage PD.

Audio-vestibular and radiological analysis in Meniere's disease

Abstract Objective: Intravenous gadolinium-enhanced inner ear magnetic resonance imaging (IV Gd-enhanced inner ear MRI) is a new technique for diagnosing Meniere's disease (MD). Vestibular tests have also long been used forMD, but which tests should be included in the oto-neurological test battery remains controversial. The evaluation method to be used to confirm the clinical diagnosis in MD is not clear. This study aimed to examine the results of vestibular tests and IV Gd-enhanced inner ear MRI in individuals diagnosed with unilateral definite Meniere's disease. Methods: IV Gd-enhanced inner ear MRI (Endolymphatic Hydrops [EH] and Perilymphatic Enhancement [PE]), conventional audiometry (0.25-8kHz), video Head Impulse Test (vHIT), cervical Vestibular Evoked Myogenic Potential (cVEMP), air caloric test, and dizziness handicap inventory were applied to 16 adult patients diagnosed with unilateral definite MD. Results: Among the patients with definite MD, EH (cochlear and/or vestibular) was identified in 93.7% and 68.7% of the symptomatic and the asymptomatic ears, respectively. There was a positive correlation between the hearing thresholds at 2, 4, 6 and 8 kHz and the degree of cochlear EH (p < 0.05). PE (cochlear and/or vestibular) was observed in 37.5% of the asymptomatic and symptomatic ears. The sensitivity of the vestibular test battery (vHIT, cVEMP, and caloric test) was 100% and its specificity was 50%, while the sensitivity of the IV Gd-enhanced inner ear MRI (EH and PE together) was 93.8% and the specificity was 81.3%. Conclusion: MRI had higher sensitivity and specificity than the vestibular test battery. PE or vHIT alone was not considered to be reliable in the diagnosis of MD. In suspected MD, the clinical history, hearing tests, and IV Gd-enhanced inner ear MRI are sufficient for diagnosis. If MRI technique is not possible, vestibular tests (caloric test and cVEMP, not vHIT) can provide reliable results when evaluated together.

Segmentation of orbital and periorbital lesions detected in orbital magnetic resonance imaging by deep learning method.

Purpose: Magnetic resonance imaging (MRI) has a special place in the evaluation of orbital and periorbital lesions. Segmentation is one of the deep learning methods. In this study, we aimed to perform segmentation in orbital and periorbital lesions. Material and methods: Contrast-enhanced orbital MRIs performed between 2010 and 2019 were retrospectively screened, and 302 cross-sections of contrast-enhanced, fat-suppressed, T1-weighted, axial MRI images of 95 patients obtained using 3 T and 1.5 T devices were included in the study. The dataset was divided into 3: training, test, and validation. The number of training and validation data was increased 4 times by applying data augmentation (horizontal, vertical, and both). Pytorch UNet was used for training, with 100 epochs. The intersection over union (IOU) statistic (the Jaccard index) was selected as 50%, and the results were calculated. Results: The 77th epoch model provided the best results: true positives, 23; false positives, 4; and false negatives, 8. The pre-cision, sensitivity, and F1 score were determined as 0.85, 0.74, and 0.79, respectively. Conclusions: Our study proved to be successful in segmentation by deep learning method. It is one of the pioneering studies on this subject and will shed light on further segmentation studies to be performed in orbital MR images.

Audio-vestibular and radiological analysis in Meniere's disease.

OBJECTIVE: Intravenous gadolinium-enhanced inner ear magnetic resonance imaging (IV Gd-enhanced inner ear MRI) is a new technique for diagnosing Meniere's disease (MD). Vestibular tests have also long been used for MD, but which tests should be included in the oto-neurological test battery remains controversial. The evaluation method to be used to confirm the clinical diagnosis in MD is not clear. This study aimed to examine the results of vestibular tests and IV Gd-enhanced inner ear MRI in individuals diagnosed with unilateral definite Meniere's disease. METHODS: IV Gd-enhanced inner ear MRI (Endolymphatic Hydrops [EH] and Perilymphatic Enhancement [PE]), conventional audiometry (0.25-8 kHz), video Head Impulse Test (vHIT), cervical Vestibular Evoked Myogenic Potential (cVEMP), air caloric test, and dizziness handicap inventory were applied to 16 adult patients diagnosed with unilateral definite MD. RESULTS: Among the patients with definite MD, EH (cochlear and/or vestibular) was identified in 93.7% and 68.7% of the symptomatic and the asymptomatic ears, respectively. There was a positive correlation between the hearing thresholds at 2, 4, 6 and 8 kHz and the degree of cochlear EH (p < 0.05). PE (cochlear and/or vestibular) was observed in 37.5% of the asymptomatic and symptomatic ears. The sensitivity of the vestibular test battery (vHIT, cVEMP, and caloric test) was 100% and its specificity was 50%, while the sensitivity of the IV Gd-enhanced inner ear MRI (EH and PE together) was 93.8% and the specificity was 81.3%. CONCLUSION: MRI had higher sensitivity and specificity than the vestibular test battery. PE or vHIT alone was not considered to be reliable in the diagnosis of MD. In suspected MD, the clinical history, hearing tests, and IV Gd-enhanced inner ear MRI are sufficient for diagnosis. If MRI technique is not possible, vestibular tests (caloric test and cVEMP, not vHIT) can provide reliable results when evaluated together.

NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.

NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.

Subacute thyroiditis following COVID-19 vaccination in a 67-year-old male patient: a case report.

Subacute thyroiditis is the most common cause of painful thyroid gland diseases. It is characterized by inflammation of the thyroid gland and usually occurs after viral upper respiratory tract infections. Coronavirus disease 2019 (COVID-19) can lead to subacute thyroiditis. There are also vaccine-related subacute thyroiditis cases in the literature. Here, we describe a 67-year-old male patient developing subacute thyroiditis following COVID-19 vaccination.

Comparison Between the Maximum Standard Uptake Value and the Ratio of Lymph Node to Primary Tumor Attenuation in Head and Neck Cancers: A Prospective Study.

OBJECTIVE: The study aimed to investigate the relationship between the ratio of lymph node attenuation to primary lesion attenuation on contrast-enhanced CT and the PET/CT standard uptake value (SUVmax) in head and neck squamous cell cancer (HNSCC). METHODS: Volunteers with advanced-stage, histopathologically proven HNSCC, indicated to have radiotherapy/chemoradiotherapy, were evaluated for CT and PET/CT for radiotherapy planning. The attenuation and SUVmax of the primary lesion and the largest, possibly metastatic lymph node, and the round index and volume of the lymph node were calculated. The relationship between lymph node/primary lesion attenuation and SUVmax ratios was investigated. The differences in CT findings between the SUVmax < and ≥3 groups were examined. RESULTS: Thirty-two cases with adequate diagnostic quality were studied. There was a very strong positive correlation between the primary lesion and lymph node attenuation (r=0.817, p<0.001), a strong correlation between the lymph node volume and SUVmax (r=0.681, p<0.001), and a moderate negative correlation between lymph node/primary lesion SUVmax and attenuation (r=-0.503, p=0.004). In patients with ≥3 SUVmax, lymph node volume and lymph node/primary lesion SUVmax were significantly higher, and the attenuation ratio was close to 1 (PPV 94.1, 86.3%, respectively). CONCLUSION: In HNSCC, the lymph node/primary lesion attenuation ratio can be used instead of SUVmax if supported by other conventional CT findings. Metastasis should be considered if lymph node attenuation is similar to primary mass attenuation and excluded if higher. CT attenuation rate can be used as a supportive finding if PET/CT cannot be performed or lymph node SUVmax is close to the acceptable cut-off for metastasis.

The Potential Role of Peritumoral Apparent Diffusion Coefficient Evaluation in Differentiating Glioblastoma and Solitary Metastatic Lesions of the Brain.

OBJECTIVE: Differentiating glioblastoma (GBM) and solitary metastasis is not always possible using conventional magnetic resonance imaging (MRI) techniques. In conventional brain MRI, GBM and brain metastases are lesions with mostly similar imaging findings. In this study, we investigated whether apparent diffusion coefficient (ADC) ratios, ADC gradients, and minimum ADC values in the peritumoral edema tissue can be used to discriminate between these two tumors. METHODS: This retrospective study was approved by the local institutional review board with a waiver of written informed consent. Prior to surgical and medical treatment, conventional brain MRI and diffusion-weighted MRI (b = 0 and b = 1000) images were taken from 43 patients (12 GBM and 31 solitary metastasis cases). Quantitative ADC measurements were performed on the peritumoral tissue from the nearest segment to the tumor (ADC1), the middle segment (ADC2), and the most distant segment (ADC3). The ratios of these three values were determined proportionally to calculate the peritumoral ADC ratios. In addition, these three values were subtracted from each other to obtain the peritumoral ADC gradients. Lastly, the minimum peritumoral and tumoral ADC values, and the quantitative ADC values from the normal-appearing ipsilateral white matter, contralateral white matter, and ADC values from cerebrospinal fluid (CSF) were recorded. RESULTS: For the differentiation of GBM and solitary metastasis, ADC3 / ADC1 was the most powerful parameter with a sensitivity of 91.7% and specificity of 87.1% at the cut-off value of 1.105 (p < 0.001), followed by ADC3 / ADC2 with a cut-off value of 1.025 (p = 0.001), sensitivity of 91.7%, and specificity of 74.2%. The cut-off, sensitivity and specificity of ADC2 / ADC1 were 1.055 (p = 0.002), 83.3%, and 67.7%, respectively. For ADC3 - ADC1, the cut-off value, sensitivity, and specificity were calculated as 150 (p < 0.001), 91.7%, and 83.9%, respectively. ADC3 - ADC2 had a cutoff value of 55 (p = 0.001), sensitivity of 91.7%, and specificity of 77.4, whereas ADC2 - ADC1 had a cut-off value of 75 (p = 0.003), sensitivity of 91.7%, and specificity of 61.3%. Among the remaining parameters, only the ADC3 value successfully differentiated between GBM and metastasis (GBM 1802.50 ± 189.74 vs. metastasis 1634.52 ± 212.65, p = 0.022). CONCLUSION: The integration of the evaluation of peritumoral ADC ratio and ADC gradient into conventional MR imaging may provide valuable information for differentiating GBM from solitary metastatic lesions.

Aseptic meningitis in rheumatoid arthritis after anti-TNF administration: a case-based literature review.

Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by articular and extra-articular manifestations. Among extra-articular involvement, rheumatoid meningitis (RM) is a rare condition, which may exhibit variable symptoms including headache, focal and/or generalized neurologic deficits. It may develop as the preceding manifestation of RA or occur at any time of the disease course. Some drugs used for the treatment of RA may give rise to aseptic meningitis or create a tendency to infectious meningitis due to their immunosuppressive effect. All these possibilities may lead to difficulties in the differential diagnosis. Achieving a diagnosis in a short time is crucial in terms of prognosis. Here, we would like to report a case with longstanding RA manifested by left-sided weakness and seizure shortly after initiating etanercept (ETA) therapy. ETA-induced meningitis was confirmed with appropriate diagnostic tools. Our aim with this case-based review is to attract the attention of this rare condition and discuss diagnostic challenges.

Brain Abscess in a Patient with Osteopetrosis: A Rare Complication

Brain abscess formation is extremely rare in patients with osteopetrosis. Herein, we report a case of viridans streptococci brain abscess in an immunocompromised child diagnosed with osteopetrosis. The patient presented with a sudden change in mental status and convulsions. Radiological evaluation revealed a temporal lobe brain abscess, and intravenous antibiotherapy was started immediately. The patient underwent abscess drainage, and laboratory investigation of pus material revealed viridans streptococci.

A comparative evaluation of the Eustachian tube cartilage between healthy and diseased ears using a 3 Tesla MRI.

PURPOSE: The purpose of this study was to prospectively assess the Eustachian tube (ET) cartilage using 3 Tesla (3T) magnetic resonance imaging (MRI) and compare the results between healthy ears and those with a middle ear disease. MATERIAL AND METHODS: The study included 56 ears with a middle ear disease as the patient group and 100 ears without a middle ear disease as the control group. The patients' age ranged from 18 to 65 years. The axial three-dimensional (3D) multiple echo recombined gradient echo (MERGE) sequence and oblique parasagittal planes were obtained. Visualisation of the ET cartilage was assessed on the MR images using a three-point numerical rating score. In the axial plane, the ET lumen's diameter was measured from the mid-portion of the cartilage. RESULTS: There was no significant difference between the patient group and the control group according to patients' age and gender, and the medial laminal thickness of the ET cartilage. In the patient group, the diameter of the ET cartilage was significantly smaller than in the control group. The ET lumen diameter was significantly lower according to each of the three scoring systems. CONCLUSIONS: 3T MRI provides an evaluation of the ET cartilage and isthmus level, which are small but important anatomical localisations and surgical landmarks. MR imaging has the potential to provide essential information on ET prior to new surgical treatments, such as balloon dilation for middle ear diseases.

Association Between Incomplete Partition Type III and Abnormal Hypothalamic Morphology: Further Imaging Evidence.

PURPOSE: Incomplete partition III (IP-III), characterized by congenital mixed or sensorineural hearing loss, is a rare genetic disease transmitted through X-linked mode of inheritance. Inner ear findings of IP-III have been well described and allow an immediate diagnosis to be made. Recently, an association between IP-III and distinct hypothalamic malformations has been reported in some of the patients with IP-III. The purpose of this study was to investigate the morphologic abnormalities of the hypothalamus in IP-III. MATERIALS AND METHODS: Magnetic resonance imaging studies of 8 subjects, including 1 set of brothers, who were diagnosed with IP-III based on their clinical and inner ear imaging findings, were analyzed. RESULTS: Of the 8 subjects, 7 demonstrated some degree of morphologic abnormality of the hypothalamus. Of these, 2 showed asymmetrical thickening, 1 showed symmetrical thickening, and 4 showed mass-like enlargement of the hypothalamus. Six of 7 subjects with hypothalamic abnormalities showed asymmetry in caudal extension of the abnormalities, which was more discernible on coronal oblique T2-weighted images. Clinically, none of the subjects had endocrinologic or neurologic symptoms. CONCLUSIONS: This retrospective analysis presents further magnetic resonance imaging evidence on the association between the rare IP-III malformations and the presence of hypothalamic morphologic abnormalities.

Diagnostic accuracy of ultrasound in subscapularis tendon abnormalities and the importance of operator experience.

OBJECTIVE: This study aimed to investigate the reasons behind the compliance, diagnostic success, and failure of ultrasound (US) examinations of two radiologists with reference to magnetic resonance imaging (MRI) in the abnormalities of subscapularis (SSC) tendon, including tendinosis. METHODS: One less experienced radiologist (operator-1) and one senior radiologist, experienced in the musculoskeletal US (operator-2), performed the shoulder US on 78 patients (mean age: 53.18 ± 10.89 [22-73] years), who had undergone MRI for routine reasons except malignancy, within 1-4 weeks of MRI. Tendinopathy, partial (PT), or full-thickness (FT) tears were recorded in the subscapularis. The thickness of the anterior and lateral soft tissues in the shoulder girdle was measured by MRI. The inter-operator agreement on the US results, the US-MRI compliance for each operator, and the relationship between the US-MRI compliance and tissue thickness were investigated. RESULTS: The inter-operator agreement on the US findings was moderate. The US-MRI compliance was fair for operator-1, but substantial for operator-2. The circumferential soft tissue thickness and US-MRI compliance were not correlated (p>0.05). The interobserver agreement in US was moderate (K: 0.415). The US-MRI compliance was fair for operator-1 (K: 0.344) and substantial for operator-2 (K: 0.616). The accuracy rates for the differentiation of normal tendon, tendinosis, PT, and FT were 59%, 75%, 72%, and 100%, respectively, for operator-1 and 87%, 83%, 85%, and 100%, respectively, for operator-2. However, the respective sensitivity of operator-1 was 46%, 19%, 44%, and 100%; and operator-2 was 91%, 67%, 82%, and 100%. The diagnostic performance of operator-1 was lower, except for FT. CONCLUSION: The thickness of the surrounding tissue does not affect the US results. The differentiation between tendinosis and PT tear is difficult (more prominent in less experienced user); however, because this would not change the treatment choice, shoulder US is recommended after basic training in subscapularis pathologies. LEVEL OF EVIDENCE: Level II, Diagnostic.

Is There a Coexistence of Peritemporal Wormian Bones and Congenital Aural Atresia?

In this study, the percent of wormian bones in congenital aural atresia group was higher than healthy group, when tested by the Fisher exact test, there appeared to be no significant statistical difference. However, in congenital aural atresia surgery, surgical manipulation can dislodge these bones causing injury to the surrounding structures. Therefore, the radiologists should report the presence of wormian bones in the peritemporal area.

Multiple Osteomas of Eustachian Tube Causing Ipsilateral Otitis Media.

BACKGROUND: Middle ear ventilation and the drainage of secretions are the basic functions of the eustachian tube. Eustachian tube (ET) dysfunction can lead to otitis media. Multiple causes of ET dysfunction exist; ET obstruction is one of them. Osseous obliteration of ET is quite rare. In the literature, there are two cases of solitary osteoma and a case of hamartoma with an osseous content in the ET. Herein, this report describes the case of a patient with multiple osseous lesions consistent with osteomas in the ET, causing ipsilateral otitis media with CT findings. CASE REPORT: A 53-year-old woman presented with left-sided intermittent otalgia and otorrhea. Temporal bone computed tomography showed opacification of middle ear consistent with otitis media and nearly complete blockage of the left ET lumen with multiple osseous lesions wall probably consistent with osteomas on the left side. CONCLUSION: There are limited data about the radiological features of ET osteoma due to its rare occurrence. Radiographically, external ear osteoma generally appears as a single pedunculated hyperdense mass on CT scan originating from the tympanosquamous or tympanomastoid suture line and extending into the auditory canal with otherwise preserved canal dimensions. Considering this information, osseous lesions arising from ET bone wall and extending into the lumen in the present case were considered as osteomas. Especially in the case of unilateral chronic otitis media, ET should not remain a neglected anatomical area.

A case of acute calcium pyrophosphate arthritis in two rare sites of involvement: The cervical facet and atlantoaxial joint.

Calcium pyrophosphate dihydrate deposition (CPPD) disease, also known as pseudogout, in which crystals are deposited in the joints and/or soft tissues, leads to a variety of articular and periarticular disorders. Herein we report a 67-year-old female patient with neck pain who was diagnosed as CPPD disease of both the atlantoaxial joint and right C4-C5 facet joint with radiological findings. The combined use of computed tomography and magnetic resonance imaging can be helpful in establishing a diagnosis and providing the correct treatment.

Coexistence of Ectopic Posterior Pituitary and Sellar/Suprasellar Arachnoid Cyst: A Case Report.

BACKGROUND: The ectopic posterior pituitary (EPP) is a rare condition characterized by the ectopic location of the posterior pituitary lobe associated with varying degrees of stalk anomalies. The arachnoid cysts (AC) are benign lesions of the arachnoid, which account for 1% of all intracranial space-occupying lesions. Sellar/suprasellar ACs account for approximately 1% of all ACs. This is the first case of coexistence EPP with sellar/suprasellar AC. CASE REPORT: A 67-year-old woman presented with 6 months history of fatigue. Her medical history was positive for irregular menstruation. Her endocrine examinations indicated low free thyroxine level with low TSH level, low oestradiol with low gonadotrophin level, slightly elevated prolactin level. Her Insulin-like growth factor-1 was below the normal levels. Dynamic contrast hypophysis MRI revealed a sellar cystic lesion with a dimension of 18 × 14 × 14 mm, extending from the suprasellar cistern, traversing the diaphragma sellae and reaching the level of the floor of the 3rd ventricle, consistent with sellar/suprasellar AC. There was no wall enhancement. The optic chiasm was compressed. The precontrast T1-weighted magnetic resonance images did not demonstrate the characteristic bright spot of posterior pituitary within the sella, which was higher in position, in the region of the median eminence. The pituitary stalk was not present. CONCLUSION: Although speculative, we have a hypothesis to explain how the EPP and sellar/- suprasellar AC coexist in this patient. Due to the absence of stalk, CSF may enter the sella tursica from the central aperture of the diaphragma sellae through which normally the stalk passes.

Irregular Contour of Inner Ear Structures and Hypomineralized Areas at Otic Capsule: Are They Other Additional Imaging Findings of Incomplete Partition-III?

PURPOSE: Incomplete partition III (IP-III) characterized by congenital mixed or sensorineural hearing loss is a rare genetic disease transmitted through X-linked inheritance. Incomplete partition III can be easily achieved based on pathognomonic computed tomography findings. The aims of this study were to investigate the otic capsule abnormalities in IP-III and to report irregular contour of membranous labyrinth and hypomineralized areas at otic capsule, which have not previously been described. MATERIALS AND METHODS: The otic capsule features of 10 subjects (8 affected patients, 1 of whom is a female; 2 carrier mothers), who were diagnosed on clinical and typical radiologic findings, were analyzed. RESULTS: All patients had typical IP-III as described in the literature. Seven of 10 patients had irregular contour. Seven of 10 patients demonstrated hypomineralized areas, which were very hypodense to normally develop otic capsule areas. One affected patients and 2 carrier mothers had a normal-looking membranous labyrinth contour and normal mineralization at otic capsule. CONCLUSIONS: We report for the first time the irregular contour of inner ear structures and hypodense otic capsule areas in patients with IP-III. We think that though speculative, abnormal development of the inner endosteal layer results in irregular contour of inner ear structures. Hypomineralized areas at otic capsule could be explained by abnormal development of middle enchondral layer due to reduced or absent vascular supply from middle ear mucosa during fetal life. These findings may be accepted as additional criteria of IP-III.

A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency.

S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive neurometabolic disorder affecting the muscles, liver, and nervous system. The disease occurs by pathogenic variants of AHCY gene encoding S-adenosylhomocysteine hydrolase (AHCY) enzyme. This article reports a patient with presumed AHCY deficiency who was diagnosed by whole exome sequencing due to compound heterozygosity of novel p.T57I (c.170C>T) and p.V217M (c.649G>A) variants of AHCY gene. The patient had diffuse edema, coagulopathy, central nervous system abnormalities, and hypotonia. She died in 3 months due to cardiovascular collapse. Clinical findings of the present case were compatible with previously reported AHCY deficiency patients and the novel variants we found are considered to be the cause of the symptoms. This article also compiles the previous reports and expands clinical spectrum of AHCY deficiency by adding new features.

Follow-Up of Treatment Response With Dynamic Doppler Ultrasound in Raynaud Phenomenon.

OBJECTIVE: The purpose of this study was to investigate the role of flow parameters obtained with dynamic Doppler ultrasound in the objective follow-up of treatment response in patients with Raynaud phenomenon (RP). SUBJECTS AND METHODS: The study included 33 patients with newly diagnosed primary RP, 31 with secondary RP, and 26 healthy participants (control subjects). Both groups of patients with RP underwent sonography before and after treatment. The control group underwent sonography once. Baseline digital arterial diameter and flow volume were measured at room temperature. After cold provocation, diameter and flow volume were measured again, and flow starting time and flow normalizing time were recorded. Data were measured as mean (± SD) values. RESULTS: Baseline diameter did not significantly increase in either group after treatment (p > 0.05) (primary RP pretreatment, 0.79 ± 0.17 mm; posttreatment, 0.82 ± 0.19 mm; secondary RP pretreatment, 0.66 ± 0.13 mm; posttreatment, 0.68 ± 0.14 mm). Baseline flow volume increased significantly in both groups (p < 0.01) (primary RP pretreatment, 3.08 ± 2.96 mL/min; posttreatment, 3.91 ± 3.39 mL/min; secondary RP pretreatment, 2.14 ± 1.94 mL/min; posttreatment, 2.80 ± 2.15 mL/min). Cold provocation diameter increased significantly in both groups after treatment (p < 0.01) (primary RP pretreatment, 0.63 ± 0.15 mm; posttreatment, 0.70 ± 0.16 mm; secondary RP pretreatment, 0.56 ± 0.15 mm; posttreatment, 0.63 ± 0.13 mm). Cold provocation flow volume increased significantly in both groups after treatment (p < 0.01) (primary RP pretreatment, 1.18 ± 1.26 mL/min; posttreatment, 2.17 ± 2.16 mL/min; secondary RP pretreatment, 1.07 ± 1.40 mL/min; posttreatment, 1.46 ± 1.67 mL/min). After treatment, there was no statistically significant increase in flow starting time in patients with primary RP (p > 0.05), but there was a significant increase in patients with secondary RP (p < 0.05) (primary RP pretreatment, 1.15 ± 2.27 minutes; posttreatment, 0.61 ± 1.41 minutes; secondary RP pretreatment, 3.13 ± 4.81 minutes; posttreatment, 1.58 ± 2.36 minutes). After treatment, flow volume normalizing time improved significantly in both groups (p < 0.01) (primary RP pretreatment, 7.24 ± 7.60 minutes; posttreatment, 3.84 ± 3.39 minutes; secondary RP pretreatment, 9.58 ± 8.49 minutes; posttreatment, 4.32 ± 3.56 minutes). Among patients with primary RP, the posttreatment flow starting time was similar to that in the control group. Despite improvements, all remaining parameters differed in the treatment group compared with the control group. CONCLUSION: Doppler ultrasound can be used effectively to monitor RP treatment. Blood flow volume can be measured without cold provocation to facilitate follow-up care of patients with RP.