Proteus syndrome with progressive paralysis of the unilateral lower limb: A rare case report and literature review.

Objective: Proteus syndrome, a rare disorder with an incidence of one in a million, is characterized by connective tissue nevi, asymmetric limb overgrowth, and abnormal subcutaneous adipose tissue distribution. Limited awareness of this condition often hinders accurate clinical diagnosis. We report a case of Proteus syndrome with concurrent progressive paralysis in the unilateral lower limb, aiming to enhance understanding of the disease and its associated complications. Methods: The patient, an 11-year-old male, has been conclusively diagnosed with Proteus Syndrome. This diagnosis was established by analyzing clinical manifestations, imaging studies, and laboratory tests. In addition, a literature review was conducted to systematically elucidate the etiology, diagnosis, treatment, and prognosis of this condition. Results: According to the clinical manifestations, we confirmed a case of Proteus syndrome. This example exhibits the general characteristics of patients with severe hemihypertrophy of the bilateral lower limbs, anomalies in hypodermic and adipose distribution, and unilateral lower limb progressive paralysis. Pathological biopsy confirmed the right chest wall mass as a lipoma. Notably, the patient experiences lower limb movement disorders caused by intraspinal disease. At the same time, the gene sequencing results of this Proteus syndrome patient showed mutations in the IDUS gene and SPECC1L gene, which have not been reported before. Conclusion: We diagnosed Proteus Syndrome with lower limb sensorimotor abnormalities, which may be caused by mutations in the IDUS gene or SPECC1L gene. This is the first report of these kinds of gene mutations in association with Proteus Syndrome.

A giant pelvic arteriovenous malformation.

Introduction: Pelvic arteriovenous malformations are rare in male patients. We present a case of pelvic arteriovenous malformation involving the seminal vesicle. Case presentation: A 58-year-old man was diagnosed with pelvic arteriovenous malformation that involved the left seminal vesicle by angiography. The patient underwent three embolization procedures and made favorable progress after the embolizations. Conclusion: Herein, we report a rare case of pelvic arteriovenous malformation involving the seminal vesicle treated by embolizations with good outcome.

Therapeutic evaluation of electrochemical therapy combined with local injection of pingyangmycin for the treatment of venous malformations in the tongue.

Background: Venous malformations are congenital developmental abnormalities that consist of enlarged dysplastic blood vessels. The tongue is a common site of venous malformations in the head and neck region. The aim of the present study was to evaluate the therapeutic effect of using electrochemical therapy (ECT) combined with local injection of pingyangmycin (PYM) for venous malformations in the tongue. Methods: 60 patients (20 male and 40 female; age range, 8 to 68 yr) with venous malformations in the tongue were treated with a combination of ECT and PYM injection or with local injection of PYM alone in the department of oral and maxillofacial surgery of the stomatological hospital of China Medical University from January 2013 through June 2019. Among them, 30 patients (group A) were treated with ECT combined with PYM injection for tongue venous malformations and 30 patients (group B) were treated with local injection of PYM alone for tongue venous malformations. The size of the lesions in the two groups varied from 3.5 × 3 × 3 to 8 × 6 × 5 cm. There was no statistical difference in the volume of the lesions between group A and group B (p > 0.05). There was no statistical difference in the age between the two groups (p > 0.05). A repeated treatment of ECT combined with PYM injection or PYM injection alone was administered for venous malformations of tongue in the group A and group B. According to the size of the lesions, the amount of ECT was 5-10 C/cm2. The injection dose of PYM was 3 ~ 5 mL and the injection concentration of PYM was 1.6 mg/mL for adults and 1.0 mg/mL for children. Glucocorticoids were given to prevent postoperative swelling. The therapeutic interval was 3 months for ECT combined with PYM injection and 2 to 4 weeks for PYM injection alone. Hemisphere measurements were used to measure the size of the lesions. 4-scale score and feedback from the patients were used to evaluate the clinical efficacy. Results: During the follow-up period from 6 months to 3 years, 60 patients achieved different degree of improvement, with a total effective rate of 85%. 30 patients in the group A received ECT combined with local injection of PYM, with an effective rate of 97%. 30 patients in the group B received local injection of PYM alone, with an effective rate of 73%. The effectiveness of ECT combined with PYM injection in the group A was significantly higher than that of PYM injection alone in the group B (p < 0.05). Postoperative symptoms such as local pain, swelling and fever often occurred in the patients, and the symptoms generally disappeared after 5 to 7 days. No mucosa necrosis or nerve damage was found. Postoperative subjective sensation and function of the tongue were normal. Conclusion: Electrochemical therapy combined with local injection of pingyangmycin was a reliable, safe and minimally invasive method for the treatment of venous malformation in the tongue. The treatment modality has fewer complications and is worth of further promotion in clinic.

Intracranial subarachnoid hemorrhage as part of spinal arteriovenous metameric syndrome.

Spinal Arteriovenous Metameric Syndrome is a rare and complex nonhereditary genetic vascular disorder, affecting multiple layers of tissues at the same metamere, including the spinal cord. We present a case of a 20-year-old man who presented to the emergency department with sudden headache and transient loss of consciousness. Cranial computed tomography scan revealed subarachnoid hemorrhage predominantly in the cerebellar cisterns, fourth ventricle, extending to the basal cisterns. Cerebral angiography showed no abnormalities. Cervical angiographic acquisitions demonstrated a spinal metameric arteriovenous malformation (AVM) at the C3 and C4 levels. Cervical magnetic resonance imaging also confirmed the metameric AVM, revealing both intradural intramedullary and extra-dural vascular lesions in the vertebrae and adjacent soft tissues. The patient was referred for endovascular treatment. Although quite rare, the association between cervical spinal arteriovenous shunt diseases and intracranial hemorrhage has been reported. The bleeding in this case may be attributed to venous reflux into intracranial veins.

Lobular Capillary Hemangioma of the Buccal Mucosa: A Rare Presentation.

Hemangiomas are benign vascular tumours of the head and neck. Lobular capillary hemangioma (LCH) is a common, acquired proliferative reaction in vascular tissue. It has female predilection, and peak incidence occurs in adolescents and young adults. Histopathologically, it is characterised by nodular proliferation of capillary-sized vessels lined by endothelial cells with plump nuclei. The capillary lumen shows the presence of numerous erythrocytes. To distinguish this lesion from other vascular lesions, a precise diagnosis is required. The majority of oral hemangiomas will regress without any treatment. If these tumours continue into adulthood, it may lead to difficulty in speech and swallowing. This case report presents an atypical manifestation of LCH of the buccal mucosa in a 51-year-old male patient.

Anorectal hemangioma, a rare cause of lower gastrointestinal bleeding, treated with selective embolization: A case report.

BACKGROUND: Anorectal hemangioma is a rare and frequently misdiagnosed cause of lower gastrointestinal (GI) bleeding. Here, we present a minimally invasive therapy with selective embolization. CASE SUMMARY: A 21-year-old male patient experienced painless rectal bleeding since childhood and was treated for ulcerative colitis. Diagnostic studies later revealed specific characteristics for vascular lesions-anorectal hemangiomas. The severity of rectal bleeding caused symptomatic anemia and possible surgical treatment was associated with a high risk of fecal incontinence. Here, we present selective embolization, a minimally invasive therapeutic approach that is proven as an alternative therapeutic method of choice. The patient significantly improved temporarily and had a small ischemic ulcer, which healed with a control colonoscopy and developed no stenosis. CONCLUSION: Awareness of the clinical and radiological features of GI hemangiomas may help improve diagnostics and avoid inappropriate therapeutic procedures.

Impact of chronic pain and depressive symptoms on the quality of life of adults with Chiari Malformation type I: A comparative study.

Chiari Malformation type I (CM-I) is a neurological disorder characterized by cerebellar tonsillar herniation. Chronic pain, particularly headaches, is a prevalent symptom in CM-I patients, significantly impacting their quality of life. The objective of this study was to evaluate the perceived quality of life in adults with CM-I and examine the influence of chronic pain and comorbid symptoms on their well-being. 26 CM-I patients (8 with decompressive surgery) and 26 matched healthy controls were recruited. Participants completed the following questionnaires: WHOQOL-BREF, HDI, NDI, OLBPDQ and HADS. CM-I patients exhibited significantly lower scores across all domains of quality of life when compared to healthy controls. Chronic pain, including headache, neck pain, and low back pain, was more pronounced among CM-I patients and demonstrated a significant correlation with depressive symptoms. Notably, after controlling for chronic pain, the differences in quality of life between CM-I patients and controls diminished. The results suggest that chronic pain, especially headaches, and comorbid depressive symptoms exert a substantial impact on the quality of life of CM-I patients. Surgical intervention alone may not fully address these issues, highlighting the importance of considering psychological interventions as part of the comprehensive treatment. Further research with larger samples and pre-post-surgery assessments is needed to validate these findings and explore the potential benefits of psychological therapies in enhancing the quality of life for CM-I patients.

Total cerebellar agenesis: A case report of a very rare condition.

Complete cerebellar agenesis is an extremely rare condition characterized by the complete absence of cerebellar tissue. Only a small number of cases have been reported, with varying motor and cognitive deficits. We describe a case of an 11-month-old baby with developmental delay, whose CT scan evaluation showed the complete absence of the cerebellum with no other associated cerebral malformation.

Comprehensive comparative study of Chiari-like malformation in veterinary and human medicine.

This review aims to enrich our understanding of Chiari-like malformation (CLM) by combining human and veterinary insights, and providing a detailed cross-species overview. CLM is a developmental abnormality characterised by caudal displacement of the hindbrain into the foramen magnum due to an entire brain parenchymal shift caused by insufficient skull volume. This malformation leads to a progressive obstruction at the craniocervical junction, which disrupts the normal cerebrospinal fluid flow, leading to secondary syringomyelia. The clinical signs of CLM and syringomyelia include phantom scratching, head tilt, head tremor, ataxia, tetraparesis, pain, muscle atrophy, and scoliosis or torticollis. Magnetic resonance imaging remains the gold standard for diagnosing CLM, since it allows the visualisation of abnormal findings such as the caudal cerebellar herniation, caudal cerebellar compression from occipital dysplasia, and attenuated cerebrospinal fluid cisternae. Although various medical and surgical interventions, including foramen magnum decompression, can provide temporary symptomatic/clinical sign relief, current literature shows a lack of sustained long-term efficacy. Therefore, additional research is needed to evaluate the long-term effects of existing treatment strategies and to compare different techniques utilised in conjunction with foramen magnum decompression.

Arteriovenous Malformation of the Superficial Femoral Artery: A Case Report.

Peripheral arteriovenous malformations (AVMs) are rare vascular anomalies characterized by abnormal connections between arteries and veins that bypass the capillary system. This case report details a three-year-old female child who presented with an enlarging swelling on her knee's medial side. AVM was diagnosed using computed tomography (CT) angiography and surgically excised. The case highlights the importance of early detection and timely intervention of AVMs to prevent complications.

A New Perspective On Arterioectatic Spinal Angiopathy with a Reversible Pattern: Cause or Consequence?

OBJECTIVE: In 2022, arterioectatic spinal angiopathy (AESA) of childhood was reported as a fatal, progressive, multi-segment myelopathy associated with a unique form of non-inflammatory spinal angiopathy involving diffuse dilatation of the anterior spinal artery and cord congestion in children. In this study, we present four more cases of AESA, using early and long-term conventional imaging and flat detector computed tomography angiography (FDCTA) imaging to assess the probability of disease regression and prevent unnecessary interventions. METHODS: We retrospectively reviewed the clinical and radiological findings of four patients with AESA seen in two neuroradiology departments between 2014 and 2023. RESULTS: The study included three boys and one girl. Two of the boys were siblings. Although the clinical and radiological presentation in the early stages of the clinical course overlapped the definition of AESA, the clinical course was more benign in three of the cases. The clinical courses of the two siblings with monosegmental cord involvement and largely reversible radiological findings suggest that some of the features in the initial definition of the disease cannot be standardized for all patients. The siblings had a mutation of the NDUFS gene, which is involved in mitochondrial function and clinical-radiological reversibility in these patients. CONCLUSION: Many mitochondrial diseases, such as this NDUFS mutation, present with myelopathy, and mitochondrial diseases can sometimes show spontaneous recovery. It is crucial to identify other genetic mutations or environmental factors that trigger the accompanying vascular ectatic findings in AESA in larger multicenter studies to prevent its potential lethal course and possible unnecessary surgical-endovascular interventions.

Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing.

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an important cause of drug-resistant epilepsy. A significant subset of individuals diagnosed with MOGHE display somatic mosaicism for loss-of-function variants in SLC35A2, which encodes the UDP-galactose transporter. We developed a mouse model to investigate how disruption of this transporter leads to a malformation of cortical development. We used in utero electroporation and CRISPR/Cas9 to knockout Slc35a2 in a subset of layer 2/3 cortical neuronal progenitors in the developing brains of male and female fetal mice to model mosaic expression. Mosaic Slc35a2 knockout was verified through next-generation sequencing and immunohistochemistry of GFP-labelled transfected cells. Histology of brain tissue in mosaic Slc35a2 knockout mice revealed the presence of upper layer-derived cortical neurons in the white matter. Reconstruction of single filled neurons identified altered dendritic arborisation with Slc35a2 knockout neurons having increased complexity. Whole-cell electrophysiological recordings revealed that Slc35a2 knockout neurons display reduced action potential firing, increased afterhyperpolarisation duration and reduced burst-firing when compared with control neurons. Mosaic Slc35a2 knockout mice also exhibited significantly increased epileptiform spiking and increased locomotor activity. We successfully generated a mouse model of mosaic Slc35a2 deficiency, which recapitulates features of the human phenotype, including impaired neuronal migration. We show that knockout in layer 2/3 cortical neuron progenitors is sufficient to disrupt neuronal excitability, increase epileptiform activity and cause hyperactivity in mosaic mice. Our mouse model provides an opportunity to further investigate the disease mechanisms that contribute to MOGHE and facilitate the development of precision therapies.

Genetic variants in FCGR2A, PTPN2, VDR as predictive signatures of aggressive phenotypes in cerebral cavernous malformation.

OBJECTIVE: The biological behavior of Cerebral Cavernous Malformation (CCM) is still controversial, lacking a clear-cut signature for a mechanistic explanation of lesion aggressiveness. In this study, we evaluated the predictive capacity of genetic variants concerning the aggressive behavior of CCM and their implications in biological processes. METHODS: We genotyped the variants in VDRrs7975232, VDRrs731236, VDRrs11568820, PTPN2rs72872125 and FCGR2Ars1801274 genes using TaqMan Genotyping Assays in a cohort study with 103 patients, 42 of whom had close follow-up visits for 4 years, focusing on 2 main aspects of the disease: (1) symptomatic events, which included both intracranial bleeding or epilepsy, and (2) the onset of symptoms. The genotypes were correlated with the levels of several cytokines quantified in peripheral blood, measured using the x-MAP method. RESULTS: We report a novel observation that the PTPN2rs72872125 CT and the VDRrs7975232 CC genotype were independently associated with an asymptomatic phenotype. Additionally, PTPN2rs72872125 CC genotype and serum level of GM-CSF could predict a diagnostic association with symptomatic phenotype in CCM patients, while the FCGR2Ars1801274 GG genotype could predict a symptomatic event during follow-up. The study also found a correlation between VDRrs731236 AA and VDRrs11568820 CC genotype to the time to the first symptomatic event. CONCLUSIONS: These genetic markers could pave the way for precision medicine strategies for CCM, enhancing patient outcomes by enabling customized therapeutic approaches.

Improving care and survival of newborns with surgical conditions in Tanzania (TINY Tanzania): a focus on gastroschisis.

PURPOSE: Gastroschisis is associated with over 90% mortality in many sub-Saharan African countries. The introduction of the Gastroschisis Care Bundle at Muhimbili National Hospital (MNH) increased survival up to 60%. We aim to explain the impact of using implementation science methods to decentralize the care of babies with gastroschisis to other parts of Tanzania. METHODS: We used a Step-Wedge Implementation Science design to scale up gastroschisis care through training of providers, dissemination and current revision of evidence-based care protocols, advocacy, and engagement with stakeholders. We used mixed methods for data collection. Anonymous patient and provider evaluation data were collected using a nationwide Gastroschisis Database via REDCap. We evaluated the implementation and effectiveness of the care bundle in different hospitals in Tanzania. RESULTS: Decentralizing care nationally was feasible, acceptable, and adaptable. A total of nine trainings have been conducted training 420 providers (14 Master Trainers) reaching seven regions of Tanzania. The three advocacy national campaigns have ensured community reach and patient engagement. A countrywide gastroschisis database was developed to collect data on patients with gastroschisis, hosted locally at MNH with 332 patients' data entered in 1 year. The majority (90.2%) were treated using preformed silo bags with an overall survival of 28.5% in all centers. Late presentation and infection remain to be the main challenge. CONCLUSION: To achieve quality and sustainable surgical care, there is a need to design, implement, evaluate, and continuously improve context-relevant strategies to achieve and sustain the survival of neonates with congenital anomalies. Decentralization enables clear connectedness of hospitals, bringing care closer to patients.

A Unique Clinical Presentation of Congenital Thumb Aplasia, Radioulnar Synostosis, and Chiari Malformation: A Potential Pediatric Syndromic Association.

The medical literature does not currently report a case of co-occurring congenital thumb aplasia, radioulnar synostosis (RUS), and Chiari malformation with scoliosis. Furthermore, there is an overlap of clinical features with other documented syndromes and associations that have potential cardiac, gastrointestinal, hematologic, and nephrological implications, thus contributing to increased morbidity and mortality if left undetected. We describe an interesting case of congenital thumb aplasia, RUS, and Chiari malformation with scoliosis in the absence of non-musculoskeletal abnormalities. These findings prompted further investigation to determine whether this is a unique presentation of a previously described syndrome, due to teratogenic exposure in utero, or a syndromic association yet to be adequately identified by the scientific community. We also identified several candidate genes that may guide genetic testing in the future.

Multimodal imaging for the diagnosis of oligodendroglioma associated with arteriovenous malformation: A case report.

BACKGROUND: The rare co-occurrence of oligodendroglioma and arteriovenous malformation (AVM) in the same intracranial location. CASE SUMMARY: In a 61-year-old man presenting with progressive headaches, is described in this case study. Preoperative multimodal imaging techniques (computed tomography, magnetic resonance imaging, magnetic resonance spectroscopy, digital subtraction angiography, and computed tomography angiography) were employed to detect hemorrhage, cystic and solid lesions, and arteriovenous shunting in the right temporal lobe. The patient underwent right temporal craniotomy for lesion removal, and postoperative pathological analysis confirmed the presence of oligodendroglioma (World Health Organization grade II, not otherwise specified) and AVM. CONCLUSION: The preoperative utilization of multimodal imaging examination can help clinicians reduce the likelihood of misdiagnosis or oversight of these conditions, and provides important information for subsequent treatment. This case supports the feasibility of craniotomy for the removal of glioma with AVM.

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no human skeletal malformations have been associated with variants in BMP5. Here, we report a patient with biallelic loss of function variants in BMP5 and a syndromic phenotype including skeletal dysostosis, dysmorphic features, hypermobility, laryngo-tracheo-bronchomalacia and atrioventricular septal defect. We discuss the phenotype in relation to the known tissue-specific expression of Bmp5 and similar morphological abnormalities previously reported in experimental animal models. Our findings suggest a new association between BMP5 variants and a range of developmental anomalies, involving ears, heart and skeleton, thereby increasing understanding of BMP5's role in human development.

Pseudoaneurysm formation after embolization of giant arteriovenous malformation of the lower limb associated with Parkes Weber syndrome: A case report and literature review.

A 63-year-old woman presented with a giant arteriovenous malformation (AVM) of the lower limbs associated with Parkes Weber syndrome (PWS). The AVM was supplied by 4 branches of the right profunda femoris artery and 4-stage embolization was performed. At 67 years of age, she developed a pseudoaneurysm due to the recanalization of a coiled profunda femoris artery branch arterial aneurysm. We performed re-embolization of the coiled profunda femoris artery and observed its shrinkage, but 2 months later, the pseudoaneurysm began to expand again, having a fatal course. This case indicates that battles against giant AVM-associated PWS follow a long and convoluted path. We present this case with reviewing 15 previously reported cases to improve our management of PWS.

Simultaneous closure of a perilymphatic fistula and placement of cochlear implant in a case of complex inner ear malformation.

Key Clinical Message: In young infants, under the age of one-year, cochlear malformation with profound hearing loss complicated by a perilymphatic fistula (PLF), presents a serious clinical challenge, warranting immediate audiological and surgical intervention. Timely PLF detection and closure, along with an early CI can significantly improve the prognosis of such patients and helps them in achieving their maximum hearing and developmental potential, in the long term. Abstract: Inner ear malformation (IEM) with incomplete partition and cystic cochlea is mostly accompanied by profound hearing loss. It gets further complicated with other malformations such as a perilymphatic fistula (PLF). This case concerns an 8-month-old child cochlear malformation and profound hearing loss. Surgical intervention identified a PLF at the stapedial footplate, which was successfully closed. The surgery also included the placement of a cochlear implant (CI) in the right ear, via the round window. The left ear was equipped with hearing aids, with persistent hearing thresholds at 70-80 db. At the age of 6 years, the child showed a good hearing outcome with the CI, with only moderate speech delay. Cochlear malformation accompanied by a perilymphatic leakage warrants immediate surgical closure of the PLF, to minimize the risk of bacterial meningitis. Wherever possible, the feasibility of a CI should be explored in such cases and a CI should be placed for treatment of hearing loss. Audiological and speech outcomes may vary with the use of the CI, especially in cases of IEM. However, an early CI coupled with timely PLF detection and closure can help children with profound hearing loss, in achieving their maximum hearing and developmental potential, in the long run.

Successful Surgical Resection of Pancreatic Arteriovenous Malformation Complicated by Acute Pancreatitis: A Case Report.

A 73-year-old man presented with left hypochondral pain. Dynamic computed tomography (CT) revealed abnormal vessels surrounding the pancreas, leading to a suspected diagnosis of pancreatic arteriovenous malformation (PAVM). At the time of the initial examination, dynamic CT revealed mild acute pancreatitis, and PAVM was diagnosed based on the findings of dynamic CT. Although repeated abdominal pain was observed after the improvement of pancreatitis, distal pancreatectomy was performed. At >1 year after surgery, no recurrence of PAVM was observed. Surgical resection should be considered in patients with symptomatic PAVM.