scholarly journals Case Report: Aggressive Tibial Pseudarthrosis as Primary Symptom in Infant with Neurofibromatosis

2016 ◽  
Author(s):  
Mary Alice Reid ◽  
Madeline Zupan ◽  
Nicole Sevison ◽  
Barbara Calhoun ◽  
Kasturi Haldar
Keyword(s):  
Exome Sequencing ◽  
Bone Fractures ◽  
Clinical Manifestations ◽  
Benign Tumors ◽  
Degree Relative ◽  
Initial Manifestation ◽  
Clinical Onset ◽  
Café Au Lait Spots ◽  
Tibia Diaphysis ◽  
Federal Guidelines

Neurofibromatosis (NF1) is a rare genetic neurological disorder with over 30 distinct clinical manifestations, the top 3 of which include cafe-au-lait spotting, benign tumors and abnormal freckling. Pseudarthrosis (PA), also known as a false joint, is a rare subset of NF1 symptomology, characterized by bone fractures and nonunion caused by severe bowing of long bones. To date, it is invariably reported as secondary to NF1, commonly at 24 months of age. Here we describe a 4-month old infant who presented with PA as primary symptom, and in absence of an NF1 first-degree relative. Initial manifestation was guarding of the leg and increased irritability upon palpation of the knee, subsequent to light playful jostling. Physician examination revealed gross anterolateral bowing of the left leg. Radiography confirmed tibia-fibula bowing and pathologic transverse fracture at tibia diaphysis, characteristic of PA. Cafe-au-lait spots developed at 6 months subsequent to PA, but with number and size well below the National Institutes of Health criteria for NF1 diagnosis. At 14 months, exome sequencing established definitive NF1 diagnosis. Treatment involved PA takedown surgery. Although healing was seen after 2 months, complications emerged by 6 months. This case suggests that for primary PA without clear etiology, first-contact and consulting physicians should pay careful attention and be vigilant to timing of clinical onset and severity. Early, severe primary PA warrants accelerated NF1 exome sequencing, suggesting expansion of existing federal guidelines may be necessary to improve detection and prognosis of this rare, debilitating but readily managed condition.

Clinical-anamnestic analysis of the course and treatment of benign and borderline epithelial ovarian tumors

2016 ◽  
pp. 86-93
Author(s):  
M.Yu. Yegorov ◽  
◽  
A.A. Sukhanova ◽  
Keyword(s):  
Varicose Veins ◽  
Clinical Manifestations ◽  
Abnormal Uterine Bleeding ◽  
Abdominal Distension ◽  
Ovarian Tumors ◽  
Lower Limbs ◽  
Benign Tumors ◽  
Age Group ◽  
Venous Disorders ◽  
Serous Tumors

The objective: study the features of gynecological, physical history, diagnosis and treatment of patients with benign epithelial ovarian tumors (BeEOT) and borderline epithelial ovarian tumors (BEOT), determining the frequency of recurrence of ovarian tumors in the postoperative period. Patients and methods. According to a retrospective analysis of case histories of 112 women with epithelial ovarian tumors (EOT) underwent conservative or radical surgical treatment in a hospital, two groups were formed: I group – patients with benign epithelial ovarian tumors (BeEOT), which amounted to 85 (75.9%) women, and group II – patients with borderline epithelial ovarian tumors (BEOT), which amounted to 27 (24.1%) women. It was found that the main complaints of patients with EOT were pain (49.1%), abdominal distension (17%), and abnormal uterine bleeding (12.5%). The highest incidence of BeEOT (31.8%) observed in the age group of 41–50 years, while the peak incidence of BEOT (44.4%) corresponds to the age group of 51–60 years. Results. In BEOT endocrine pathology occurs significantly more frequently (p<0.05) than in BeEOT – 25.9% vs. 9.4%, respectively. Pathology of pancreatic-hepatobiliary system occurs significantly more frequently (p<0.05) in patients with BEOT compared with BeEOT – 81.5% versus 57.6%, respectively. Venous disorders (varicose veins of the pelvic organs, lower limbs, haemorrhoids) observed in BEOT significantly more frequently (p<0.05) than in BeEOT – 18.5% vs. 5.9%, respectively. EOT most often diagnosed in the period from 1 to 6 months after the first clinical manifestations with an average uptake of medical care 4.6±0.57 months. In assessing of peritoneal exudate cytogram the mesothelium cells are significantly more common for BeEOT (p<0.01) than BEOT – 79.4% versus 40.9%, respectively. Cervicitis is more likely significantly to occur in BeEOT (p<0.01) than in BEOT – 29.4% vs. 7.4%, respectively. The most common histological type among the benign tumors of the ovaries are endometriomas, which occurred in 48.2% of all BeEOT cases, and among the borderline tumors – serous tumors, which accounted for 59.3% of all BEOTs. Conclusion. The use of organ sparing surgery in EOT increases the risk of recurrence, especially in the case of endometrial histology or borderline variant of tumor. Key words: benign and borderline epithelial ovarian tumors, clinical-anamnestic analysis, diagnosis, treatment.

scholarly journals Facial cleft? The first case of manitoba‐oculo‐tricho‐anal syndrome with novel mutations in China: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Shuchen Gu ◽  
Yimin Khoong ◽  
Xin Huang ◽  
Tao Zan
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Manifestations ◽  
Sporadic Case ◽  
Facial Cleft ◽  
Ocular Manifestations ◽  
First Case ◽  
Whole Exome ◽  
Chinese Girl ◽  
Low Prevalence

Abstract Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

scholarly journals Bilateral temporal bone fractures: a case report

2017 ◽  
Vol 4 (1) ◽  
pp. 271
Author(s):  
Kiran Natarajan ◽  
Koka Madhav ◽  
A. V. Saraswathi ◽  
Mohan Kameswaran
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Facial Nerve ◽  
Temporal Bone ◽  
Facial Paralysis ◽  
Bone Fractures ◽  
Clinical Manifestations ◽  
Csf Leak ◽  
The Right ◽  
Temporal Bones

<p>Bilateral temporal bone fractures are rare; accounting for 9% to 20% of cases of temporal bone fractures. Clinical manifestations include hearing loss, facial paralysis, CSF otorhinorrhea and dizziness. This is a case report of a patient who presented with bilateral temporal bone fractures. This is a report of a 23-yr-old male who sustained bilateral temporal bone fractures and presented 18 days later with complaints of watery discharge from left ear and nose, bilateral profound hearing loss and facial weakness on the right side. Pure tone audiometry revealed bilateral profound sensori-neural hearing loss. CT temporal bones &amp; MRI scans of brain were done to assess the extent of injuries. The patient underwent left CSF otorrhea repair, as the CSF leak was active and not responding to conservative management. One week later, the patient underwent right facial nerve decompression. The patient could not afford a cochlear implant (CI) in the right ear at the same sitting, however, implantation was advised as soon as possible because of the risk of cochlear ossification. The transcochlear approach was used to seal the CSF leak from the oval and round windows on the left side. The facial nerve was decompressed on the right side. The House-Brackmann grade improved from Grade V to grade III at last follow-up. Patients with bilateral temporal bone fractures require prompt assessment and management to decrease the risk of complications such as meningitis, permanent facial paralysis or hearing loss. </p>

Racjonalne przesłanki do wyłączenia nerwiakowłókniakowatości z rodziny RASopatii i fakomatoz – podstawy projektu zarządzania chorobą w ramach koordynowanej opieki medycznej

2019 ◽  
Vol 23 (1) ◽  
Author(s):  
Marek W. Karwacki
Keyword(s):  
Rare Diseases ◽  
Clinical Course ◽  
Benign Tumors ◽  
Disease Course ◽  
Small Children ◽  
Monogenic Disorders ◽  
Café Au Lait Spots ◽  
Legius Syndrome ◽  
Risk Of Malignancy ◽  
The Subject

Term neurofibromatoses (NF) comprises three distinct medical entities of different clinical course with overlapping symptomatology and different molecular pathology. NF-1 and its allelic and mosaic forms is one of the most frequent monogenic disorders and together with Legius syndrome belongs to RASopathies. Remaining two, NF-2 and schwannomatosis (NF-3), are ultra-rare diseases and do not belong to RASopathies. Symptomatology, diagnostic and therapeutic requirements as well as complications of NF course are so different from those observed in other RASopathies and phacomatoses, that neurofibromatoses should constitute a separate classification group with distinct program of care. The crucial argument behind this thesis is that NFs are primary neoplasia syndromes, as benign tumors arise in all patients lifelong and a risk of malignancy significantly exceed populational risk in NF patients. Primary diagnostic problems, especially in small children with multiple cafè-au-lait spots required differentiation among almost 80 clinical entities, divers tumors and potential malignancies, varied multiorgan oncological and non-oncological complications of disease course, warrant not only complex multi-specialty consultations and comprehensive supervision, but the coordinated medical care in general. Proofs confirming title’s thesis are the subject of this article.

scholarly journals Acute Agitation as an Initial Manifestation of Neuro-Behçet’s Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Yuki Otsuka ◽  
Tetsuya Yumoto ◽  
Hiromi Ihoriya ◽  
Namiko Matsumoto ◽  
Kota Sato ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Parietal Lobe ◽  
Psychiatric Symptoms ◽  
Behçet's Disease ◽  
Physical Restraint ◽  
Clinical Manifestations ◽  
Initial Manifestation ◽  
Behcet's Disease ◽  
Acute Agitation

Managing acutely agitated or violent patients in the emergency department (ED) represents a significant challenge. Acute agitation as an initial manifestation of neuro-Behcet’s disease (NBD) is an extremely rare clinical entity. A 44-year-old male, who had been complaining about a severe headache and fever for several days, was admitted to our ED due to acutely presented incontinence and agitation. On admission, physical restraint and sedation with sevoflurane and propofol were required for his combative and violent behavior. Cerebrospinal fluid examination revealed increased cell count. Fluid attenuated inversion recovery magnetic resonance imaging showed a high intensity signal in the left parietal lobe and bilateral occipital lobe. As infectious meningoencephalitis was suspected, empirical therapy was immediately started. He recovered uneventfully without neurological defect in seven days. Based on positive human leukocyte antigen B-51 and clinical manifestations, the diagnosis of NBD was made and remitted by steroid therapy. Although acute NBD commonly presents with focal neurological symptoms, psychiatric symptoms could be considered the first manifestation. A focused and thorough examination coupled with appropriate management strategies can assist emergency clinicians safely and effectively manage these patients.

scholarly journals Deep Vein Thrombosis as Initial Manifestation of Whipple Disease

2016 ◽  
Vol 10 (3) ◽  
pp. 640-645 ◽  
Author(s):  
Mônica Souza de Miranda Henriques ◽  
Alexandre Rolim da Paz ◽  
Ana Beatriz Person Gaertner ◽  
Cibelle Ingrid Stephen Melo ◽  
Priscyanne Lins Filgueiras ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Lower Limb ◽  
Periodic Acid ◽  
Blood Stasis ◽  
Clinical Manifestations ◽  
Pathological Examination ◽  
Intestinal Lymphangiectasia ◽  
Initial Manifestation ◽  
Vein Thrombosis ◽  
Whipple Disease

Introduction: Wipple disease (WD) is a rare chronic disease caused by the bacillus Tropheryma whipplei. Constitutive, rheumatologic, gastrointestinal, cardiac, cerebral, lymphatic, cutaneous, and ophthalmological signs are possible systemic symptoms. However, thrombotic manifestations are rarely described as “stroke-like syndrome” or arterial thrombosis. Diagnosis is based on clinical manifestations and pathological examination. Laboratory findings may include anemia, leukocytosis, and thrombocytosis. Objective: We report a case of venous thrombosis as initial manifestation of WD. Case Report: We describe the case of a 53-year-old male with iliofemoral vein thrombosis followed by intermittent diarrhea, loss of appetite, abdominal distension, and bloating. A mild malnutrition state with a weight loss of 13 kg, pallor (+/4 +), presence of lower-limb edema (+/4 +), and hypertympanic distended abdomen occurred. Laboratory tests on admission revealed anemia, positive inflammatory activity tests, and normal coagulation. Endoscopic examination showed villous edema with white dotted infiltrates in the second duodenal portion and intestinal lymphangiectasia in the terminal ileum. Pathological examination revealed numerous macrophages with positive periodic acid-Schiff inclusions. Venous Doppler ultrasound showed extensive deep thrombosis on the left lower limb and recanalization of the femoral vein in the right lower limb. The patient was treated with ceftriaxone and enoxaparin sodium, which led to an improvement of gastrointestinal and thrombosis symptoms. Comments: Hypercoagulability, endothelial damage, vasculitis, and blood stasis are present in T. whipplei infection, which are associated with the activation of inflammatory mechanisms as well as procoagulant and thromboembolic events. WD should be part of the differential diagnosis of diseases that cause venous thrombosis of unknown origin.

Different Clinical Manifestations Between Primary Gastrointestinal Malignancies and Benign Tumors in Children

2012 ◽  
Vol 55 (4) ◽  
pp. 440-444 ◽  
Author(s):  
Chow-Hong Tay ◽  
Hung-Chang Lee ◽  
Chun-Yan Yeung ◽  
Wai-Tao Chan ◽  
Chuen-Bin Jiang ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Benign Tumors ◽  
Gastrointestinal Malignancies

Preliminary Exploration of the Diagnosis and Treatment of Skull-Based Chondromyxoid Fibromas

2017 ◽  
Vol 15 (3) ◽  
pp. 270-277
Author(s):  
Kangmin He ◽  
Shize Jiang ◽  
Xin Zhang ◽  
Ying Mao ◽  
Wei Zhu ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Diagnosis And Treatment ◽  
Benign Tumors ◽  
Symptom Duration ◽  
Study Cohort ◽  
Imaging Characteristics ◽  
Subtotal Removal ◽  
Base Of The Skull

Abstract BACKGROUND Chondromyxoid fibromas (CMFs) are benign tumors that occur rarely in the skull base. OBJECTIVE To conduct a preliminary exploration of the diagnosis and treatment of cranial CMFs. METHODS A retrospective analysis of 19 cases of CMFs in the base of the skull between 2009 and 2014 in our hospital was conducted. The clinical manifestations, imaging characteristics, pathology, treatment strategies, and outcomes were examined. RESULTS The study cohort included 7 women (36.8%) and 12 men (63.2%), and symptom duration ranged from 1 mo to 5 yr. Of the 19 intracranial CMF cases examined, 15 (78.9%) conformed with the diagnostic criteria for extracranial CMF. Resection operations yielded subtotal removal of 13 tumors (68.4%) and partial removal of 6 tumors (31.6%). Postoperative pathological analysis demonstrated that the tumors were characterized by spindle-shaped or stellate cells arranged in a myxoid matrix without mitoses or permeation. Follow-up (range 2-7.3 yr; mean, 4.4 ± 1.7 yr) revealed that symptoms improved postoperatively in 15 cases (78.9%), were maintained in 2 cases (10.5%), and worsened in 2 cases (10.5%). Imaging follow-up revealed that residual tumors were stable in 18 cases (94.7%) and enlarged in 1 case (5.3%). CONCLUSION An accurate diagnosis should involve comprehensive consideration of clinical, radiological, and pathological features. The treatment strategy for CMFs consists of maximizing tumor removal while protecting adjacent key structures. Postoperative stereotactic radiotherapy is appropriate for residual tumors.

scholarly journals Phenotypic Heterogeneity and Genotypic Spectrum of Primary Immunodeficiencies with Whole Exome Sequencing in a Thai Patient Cohort

2021 ◽  
Author(s):  
Maliwan Tengsujaritkul ◽  
Narissara Suratannon ◽  
Chupong Ittiwut ◽  
Rungnapa Ittiwut ◽  
Pantipa Chatchatee ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Decision Making ◽  
Diagnostic Yield ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Genetic Defects ◽  
Diagnostic Strategy ◽  
Patient Cohort ◽  
Whole Exome

Background: Primary immunodeficiency diseases (PIDs) comprise more than 400 rare diseases with potential life-threatening conditions. Clinical manifestations and genetic defects are heterogeneous and diverse among populations. Here, we aimed to characterize the clinical, immunological and genetic features of Thai pediatric patients with PIDs. The use of whole exome sequencing (WES) in diagnosis and clinical decision making was also assessed. Methods: 36 unrelated patients with clinical and laboratory findings consistent with PIDs were recruited from January 2010 to December 2020. WES was performed to identify the underlying genetic defects. Results: The median age of disease onset was 4 months (range; 1 month to 13 years) and 24 were male (66.7%). Recurrent sinopulmonary tract infection was the most common clinical presentation followed by septicemia, and severe pneumonia. Using WES, we successfully identified the underlying genetic defects in 18 patients (50%). Of the 20 variants identified, six have not been previously described (30%). According to the International Union of Immunological Societies (IUIS), 38.9% of these detected cases (7/18) were found to harbor variants associated with genes in combined immunodeficiencies with associated or syndromic features (Class II). Conclusion: The diagnostic yield of WES in this patient cohort was 50%. Six novel genetic variants in PID genes were identified. The clinical usefulness of WES in PIDs was demonstrated, emphasizing it as an effective diagnostic strategy in these genetically heterogeneous disorders.

scholarly journals Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia

2021 ◽  
Vol 27 (3) ◽  
pp. 71-83
Author(s):  
Tatyana V. Markova ◽  
Vladimir M. Kenis ◽  
Evgeniy V. Melchenko ◽  
Peter A. Sparber ◽  
Marina S. Petukhova ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Genetic Heterogeneity ◽  
Clinical Manifestations ◽  
Genetic Data ◽  
Congenital Glaucoma ◽  
Ossification Center ◽  
Renal Hypoplasia ◽  
Desbuquois Dysplasia ◽  
Joint Dislocations

Introduction. Desbuquois dysplasia is a rare skeletal dysplasia with an autosomal recessive inheritance, resembling to the group of multiple joint dislocations. The disease is caused by mutations in the CANT1 and XYLT1 genes, the protein products of which are involved in the degradation of proteoglycans, which play an important role in endochondral ossification. The polymorphism of clinical and radiological characteristics and the genetic heterogeneity of Desbuquois dysplasia necessitate the description of the phenotypic characteristics of patients with various types of mutations, which optimize diagnosis. Objective description of the clinical and radiological characteristics of three Russian patients with Desbuquois dysplasia of types 1 and 2 with remarkable orthopedic manifestation, caused by mutations in the CANT1 and XYLT1 genes. Materials and Methods. Genealogical, clinical, radiographic and genetic data of three unrelated Russian patients aged 2 to 8 years was carried out. Genetic testing was carried out using clinical exome sequencing and methyl-sensitive PCR. Results. Two patients were diagnosed with type 1 disease due to a previously described homozygous mutation in the CANT1 gene: c.898CT (p.Arg300Cys), and one type 2 due to heterozygous mutations in the XYLT1 gene. One mutation: c.1651CT (p.Arg551Cys) was detected during exome sequencing, and the second mutation: expansion of GGC repeats in the promoter region of the gene, revealed by methyl-sensitive PCR of the first exon of the gene. The main clinical signs of the disease were micromelic dwarfism, hypermobility in the joints and specific facial dysmorphisms, radiographic analysis revealed characteristic monkey wrench appearance of the proximal femur in all 3 patients, additional ossification center of the second metacarpal, advanced bone age and multiple dislocations in the joints. The patients also had extra-skeletal manifestations (congenital glaucoma, obstructive bronchitis, renal hypoplasia and congenital heart malformations). Conclusion. Genetic heterogeneity and the presence of polymorphism of clinical manifestations make it possible to consider sequencing of the clinical exome as the optimal method for diagnosing Desbuquois dysplasia types 1 and 2. Analysis of the literature and the results of our molecular genetic data indicate the possibility of expansion of the GGC repeat in the XYLT1 gene in patients with clinical manifestations of type 2 Desbuquois dysplasia.

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