Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.

BACKGROUND: Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomyelinating leukodystrophy on magnetic resonance imaging. If left untreated, progressive neurodegeneration occurs. However, early treatment with folinic acid has been shown to stabilize or reverse neurological features. Approximately thirty patients have been described worldwide. Here, we report the first two cases with genetically proven cerebral folate transport deficiency from South-Eastern Europe, describe the effect of oral folinic acid therapy on clinical and neuroradiological features and review the literature. RESULTS: Two siblings presented in childhood with clinical and radiological findings consistent with a hypomyelinating leukodystrophy. Exome sequencing revealed a novel homozygous pathogenic variant in FOLR1 (c.465_466delinsTG; p.W156G), confirming the diagnosis of neurodegeneration due to cerebral folate transport deficiency. Folinic acid treatment was promptly initiated in both patients. The younger sibling was treated early in disease course at 2 years of age, and demonstrated complete recovery in clinical and MRI features. The older sibling, who was 8 years of age at the time of diagnosis and treatment, demonstrated partial but substantial improvements. CONCLUSION: We present the first account in the literature that early treatment initiation with oral folinic acid alone can result in complete neurological recovery of both clinical and radiological abnormalities in neurodegeneration due to cerebral folate deficiency. Moreover, through the report of these patients along with review of the literature, we provide information about the natural history of the disease with comparison of treatment effects at different stages of disease progression. This report also reinforces the importance of universal access to genetic testing to ensure prompt diagnoses for treatable disorders.

Detection of impaired renal allograft function in paediatric and young adult patients using arterial spin labelling MRI (ASL-MRI).

The study aimed to discriminate renal allografts with impaired function by measuring cortical renal blood flow (cRBF) using magnetic resonance imaging arterial spin labelling (ASL-MRI) in paediatric and young adult patients. We included 18 subjects and performed ASL-MRI on 1.5 T MRI to calculate cRBF on parameter maps. cRBF was correlated to calculated glomerular filtration rate (GFR) and compared between patient groups with good (GFR ≥ 60 mL/min/1.73 m2) and impaired allograft function (GFR < 60 mL/min/1.73 m2). Mean cRBF in patients with good allograft function was significantly higher than in patients with impaired allograft function (219.89 ± 57.24 mL/min/100 g vs. 146.22 ± 41.84 mL/min/100 g, p < 0.008), showing a highly significant correlation with GFR in all subjects (r = 0.75, p < 0.0001). Also, the diffusion-weighted imaging (DWI-MRI) apparent diffusion coefficient (ADC) and Doppler measurements of peak-systolic and end-diastolic velocities and the resistive index (PS, ED, RI) were performed and both methods showed no significant difference between groups. ADC implied no correlation with GFR (r = 0.198, p = 0.464), while PS indicated moderate correlation to GFR (r = 0.48, p < 0.05), and PS and ED moderate correlation to cRBF (r = 0.58, p < 0.05, r = 0.56, p < 0.05, respectively). Cortical perfusion as non-invasively measured by ASL-MRI differs between patients with good and impaired allograft function and correlates significantly with its function.

Brachial plexopathy as a consequence of nerve root swelling after shoulder trauma in a patient following an acute seizure.

BACKGROUND: Epileptic seizures might be associated with an increased risk of fractures, either as a result of trauma after a fall or as a result of excessive muscle contraction. In the pediatric population, excessive muscle contraction is a more significant risk factor for fractures, due to the lack of maturity in the musculoskeletal system, while antiepileptic therapy itself can lead to a reduction of bone density. Proximal humeral fractures in the pediatric population are not frequent but both proximal humeral fractures and shoulder dislocation increase the chance of brachial plexus injuries and peripheral nerve lesions. CASE: In this case report, we present a patient who suffered both avulsive greater tuberosity humeral fracture and anterior shoulder dislocation, initially diagnosed by radiography, with consequent brachial plexus injury of the left arm after an epileptic seizure followed by excessive muscle contraction. Electromyoneurography initially showed amplitudes` reduction in tested nerves along with signs of muscle denervation as well as clinical examination signs of the left arm muscular hypotrophy and hypoesthesia, especially in the left humero-scapular region. Electrotherapy and kinesitherapy as well as intramuscular dexamethasone injections administered three weeks after the injury finally improved the clinical examination findings in the patient. CONCLUSION: The early detection of swelling compression, accompanied with appropriate therapy may prevent the progression of axonal damage and preserve the functional status of the affected limb.

Atypical localization of intraosseous angioleiomyoma in the rib of a pediatric patient: a case report.

BACKGROUND: This is the first reported case of a primary intraosseous angioleiomyoma and the second case of a primary leiomyoma of the rib, irrespective of age. Angioleiomyomas mostly occur in patients of advanced age, in any part of the body, particularly the lower extremities and present as painful, slow-growing nodules in the dermis, subcutaneous fat or deep fascia. Other localizations, especially bone, are considered extremely rare, as well as their occurrence in paediatric patients. CASE PRESENTATION: A 10-year-old girl was admitted to the orthopaedic surgery department for further assessment of a pain localized in the posterior part of the right hemithorax. After magnetic resonance imaging (MRI) and surgical biopsy, intraosseus angioleiomyoma of the fourth rib was diagnosed by histopathology examination. Atypical costal localization of this type of a benign tumour presents diagnostic difficulty, especially in children. The differential diagnoses included cartilaginous tumours, Ewing sarcoma, fibrous dysplasia, Langerhans cell histiocytosis, intraosseous haemangioma and metastatic tumours. We report a detailed diagnostic procedure including MRI, selective angiography and histopathologic examination. CONCLUSION: Diagnosis of intraosseous angioleiomyoma is difficult due to the extreme rarity of this tumour and absence of pathognomonic radiological signs. Although very rarely identified in bones and young age group, radiographers and reporting doctors should be aware of this possible angioleiomyoma presentation and supported by the provided detailed diagnostic information.

A posttraumatic pseudoaneurysm of the left radial artery as a result of a stab wound in an 8-year-old girl.

Pseudoaneurysms arise from a disruption of arterial wall continuity and are most commonly related to a penetrating trauma, an arterial wall inflammation or iatrogenic causes. They differ from real aneurysms due to a lack of one or more layers of the arterial wall. The frequency of peripheral artery pseudoaneurysms in the upper extremities is less than in the lower extremities and its most common cause is a gunshot or a stab wound. The risk of a rupture is higher than in true aneurysms due to a lack of wall layers, therefore requiring surgical treatment in most cases. Here we describe an unusual case of an 8-year-old girl who presented to the emergency department complaining of swelling and pain in her left distal forearm. One month before admission she experienced a penetrating trauma in the same area due to a self inflicted stab wound. After clinical and duplex ultrasonography evaluation the tumefaction proved to be a posttraumatic pseudoaneurysm of the left radial artery.

Imaging gastric structuring of lipid emulsions and its effect on gastrointestinal function: a randomized trial in healthy subjects.

BACKGROUND: Efficient fat digestion requires fat processing within the stomach and fat sensing in the intestine. Both processes also control gastric emptying and gastrointestinal secretions. OBJECTIVE: We aimed to visualize the influence of the intragastric stability of fat emulsions on their dynamics of gastric processing and structuring and to assess the effect this has on gastrointestinal motor and secretory functions. DESIGN: Eighteen healthy subjects with normal body mass index (BMI) were studied on 4 separate occasions in a double-blind, randomized, crossover design. Magnetic resonance imaging (MRI) data of the gastrointestinal tract and blood triglycerides were recorded before and for 240 min after the consumption of the following 4 different fat emulsions: lipid emulsion 1 (LE1; acid stable, 0.33 µm), lipid emulsion 2 (LE2; acid stable, 52 µm), lipid emulsion 3 (LE3; acid unstable, solid fat, 0.32 µm), and lipid emulsion 4 (LE4; acid unstable, liquid fat, 0.38 µm). RESULTS: Intragastric emulsion instability was associated with a change in gastric emptying. Acid-unstable emulsions exhibited biphasic and faster emptying profiles than did the 2 acid-stable emulsions (P ≤ 0.0001). When combined with solid fat (LE3), different dynamics of postprandial gallbladder volume were induced (P ≤ 0.001). For acid-stable emulsions, a reduction of droplet size by 2 orders of magnitude [LE1 (0.33 µm) compared with LE2 (52 µm)] delayed gastric emptying by 38 min. Although acid-stable (LE1 and LE2) and redispersible (LE4) emulsions caused a constant increase in blood triglycerides, no increase was detectable for LE3 (P < 0.0001). For LE3, MRI confirmed the generation of large fat particles during gastric processing, which emptied into and progressed through the small intestine. CONCLUSIONS: MRI allows the detailed characterization of the in vivo fate of lipid emulsions. The acute effects of lipid emulsions on gastric emptying, gallbladder volume, and triglyceride absorption are dependent on microstructural changes undergone during consumption. Gastric peristalsis and secretion were effective at redispersing pools of liquid fat in the stomach. This trial was registered at clinicaltrials.gov as NCT01253005.