scholarly journals Siblings with megalencephalic leukoencephalopathy with subcortical cysts van der Knaap disease

2021 ◽  
pp. 20200150
Author(s):  
Saanida M P ◽  
Lin Varghese ◽  
Rinu Susan Thomas ◽  
Sandeep Govindan Prasad
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Turkish Population ◽  
Imaging Features ◽  
Imaging Findings ◽  
Temporal Lobes ◽  
Parietal Lobes ◽  
Autosomal Recessive Condition ◽  
And Diffusion ◽  
Subcortical Cysts

Cerebral leukoencephalopathy and megalencephaly with subcortical cysts (also known as van der Knaap disease) is an autosomal recessive condition. The disease was initially described in India and Netherlands independently and seems to have highest incidence in Indian Agrawal community and Turkish population. 1 The objective of this study is to document the case of two siblings with this condition, from a non-Agrawal Indian community and briefly describe the imaging features of this condition. Two siblings, born out of a third-degree consanguineous marriage, with simple focal seizures were subjected to MRI with diffusion-weighted imaging and spectrometry. The findings were compared to diseases with similar clinical presentation. Subcortical cysts initially involving anterior temporal lobes and subsequently frontal and parietal lobes, sparing of central white mater, small N acetyl aspartate peak and diffusion facilitation were the imaging findings. The imaging findings were consistent with the diagnosis of the rare genetic disorder- Cerebral leukoencephalopathy and megalencephaly with subcortical cysts.

scholarly journals Van der Knaap disease

2019 ◽  
Vol 7 (10) ◽  
pp. 3917
Author(s):  
Manoj Kumar Mahata ◽  
Saikat Ghosh ◽  
K. C. Ghosh ◽  
R. Bhattacharya ◽  
G. P. Mondal
Keyword(s):  
Cognitive Impairment ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Rare Form ◽  
Temporal Lobes ◽  
Mri Brain ◽  
Early Onset Ataxia ◽  
Subcortical Cysts

Van der Knaap disease is a rare form of leukodystrophy, phenotypically characterized by megalencephaly, early-onset ataxia, pyramidal features, cognitive impairment, with an autosomal recessive inheritence. MRI Brain shows T1 and FLAIR hypointense subcortical cysts in mostly temporal lobes and in fronto-parietal subcortical areas. Authors report a 20 yr. girl with typical features.

scholarly journals Imaging manifestations of juvenile hyaline fibromatosis: A case report and literature review

2022 ◽  
Author(s):  
Jinfen Yu ◽  
Wang Linsheng ◽  
Tian Jing ◽  
Yu Xuewen ◽  
Lixin Sun
Keyword(s):  
Skeletal Muscle ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Juvenile Hyaline Fibromatosis ◽  
Autosomal Recessive Condition ◽  
Hypointense Signal ◽  
Head Neck ◽  
Chromosome 4Q21 ◽  
Hyaline Material

Objective: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 8-year-old male (case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were nonconsanguineous. Results : JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.

scholarly journals Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings

2019 ◽  
Vol 158 (3) ◽  
pp. 126-132
Author(s):  
Murat Torgutalp ◽  
Ceren D. Durmaz ◽  
Halil G. Karabulut ◽  
Wenke Seifert ◽  
Denise Horn ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Periosteal Reaction ◽  
Homozygous Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Imaging Findings ◽  
Primary Hypertrophic Osteoarthropathy ◽  
Digital Clubbing ◽  
Autosomal Recessive Condition ◽  
Homozygous Mutations ◽  
Hands And Feet

Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in the HPGD gene in chromosome 4q34.1 or the SLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, MRI, and ultrasonographic features of the case. These clinical and imaging findings were compatible with the diagnosis of PHO, and a novel homozygous mutation, c.576C>G, p.Ile192Met, was found in SLCO2A1.

scholarly journals Alkaptonuria and Ochronosis – Experience From Slovakia

2014 ◽  
Vol 61 (1) ◽  
Author(s):  
J. Rovenský ◽  
T. Urbánek ◽  
R. Imrich
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Homogentisic Acid ◽  
Recessive Condition ◽  
Tyrosine Metabolism ◽  
Autosomal Recessive Condition

AbstractAlkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide accumulate in the blood and are excreted in urine in large amounts. The polymer of homogentisic acid called alkapton impregnates bradotrophic tissues.

scholarly journals Van Der Knaap Disease in a 3-year-old Male Child: A Case Report

2020 ◽  
Vol 9 (2) ◽  
pp. 145-148
Author(s):  
Imran Mahmood Khan ◽  
Asma Shabbir ◽  
Sadaf Naz ◽  
Rubina Zulfqar
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Male Child ◽  
Cerebral White Matter ◽  
Recessive Inheritance ◽  
Temporal Lobes ◽  
Mental Deterioration ◽  
Definite Treatment ◽  
Subcortical Cysts

Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy with autosomal-recessive inheritance caused by mutation in the gene MLC1 which is localized on chromosome 22q. It is characterized by macrocephaly, motor developmental delay, seizures, spasticity, ataxia, and mild mental deterioration. On neuroimaging, involvement of cerebral white matter along with subcortical cysts in frontal and temporal lobes are hallmarks of the disease. There is no definite treatment of this disease. We report a case of Van Der Knaap disease in a 3-year-old male child who presented with seizures and delayed developmental milestones.

Rhinosinusitis in the Pediatric Patient with Cystic Fibrosis

2014 ◽  
Vol 10 (3) ◽  
pp. 198-201 ◽  
Author(s):  
Christopher Fundakowski ◽  
Rosemary Ojo ◽  
Ramzi Younis
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Chronic Sinusitis ◽  
Genetic Disorder ◽  
Symptomatic Relief ◽  
Recurrence Rates ◽  
Polyp Recurrence ◽  
Sinonasal Polyposis

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder where a deletion mutation and subsequent downstream alteration in transmembrane regulator proteins results in increased mucus viscosity. CF manifests clinically with chronic multisystem inflammation and recurrent infections. Nearly all children with CF have chronic sinusitis, and a large majority will have concurrent sinonasal polyposis. Chronic sinusitis and sinonasal polyposis in pediatric patients with CF can be managed conservatively initially, though most will fail medical management and require surgical intervention. Unfortunately, symptom resolution is marginal and polyp recurrence rates are high. Currently, no cure exists for CF and the mainstay of treatment is to provide symptomatic relief, and minimize disease morbidity.

Clinicopathological and Imaging Features Predictive of Clinical Outcome in Metaplastic Breast Cancer

2020 ◽  
Vol 16 (6) ◽  
pp. 729-738
Author(s):  
Ga Young Yoon ◽  
Joo Hee Cha ◽  
Hak Hee Kim ◽  
Hee Jung Shin ◽  
Eun Young Chae ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Clinical Outcome ◽  
Clinical Outcomes ◽  
Tumor Size ◽  
Multivariable Analysis ◽  
Disease Free Survival ◽  
Imaging Features ◽  
Peritumoral Edema ◽  
Imaging Findings ◽  
Metaplastic Breast Cancer

Background: Metaplastic breast cancer (MC) is a rare disease, thus it is difficult to study its clinical outcomes. Objective: To investigate whether any clinicopathological or imaging features were associated with clinical outcome in MC. Methods: We retrospectively evaluated the clinicopathological and imaging findings, and the clinical outcomes of seventy-two pathologically confirmed MCs. We then compared these parameters between triple-negative (TNMC) and non-TNMCs (NTNMC). Results: Oval or round shape, and not-circumscribed margin were the most common findings on mammography, ultrasound (US), and magnetic resonance imaging (MRI). It was mostly a mass without calcification on mammography, and revealed complex or hypoechoic echotexture, and posterior acoustic enhancement on US, and rim enhancement, wash-out kinetics, peritumoral edema, and intratumoral necrosis on MRI. Of all 72, 64 were TNMCs, and eight were NTNMCs. Clinicopathological and imaging findings were similar between the two groups, except that MRI showed peritumoral edema more frequently in TNMCs than NTNMCs (p=0.045). There were 21 recurrences and 13 deaths. Multivariable analysis showed that larger tumor size and co-existing DCIS were significantly predictive of Disease free survival (DFS), and larger tumor size and neoadjuvant chemotherapy were significantly predictive of overall survival (OS). Conclusion: MC showed characteristic imaging findings, and some variables associated with survival outcome may help to predict prognosis.

scholarly journals A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

2021 ◽  
Vol 9 ◽  
pp. 232470962110146
Author(s):  
Erin Finn ◽  
Kimberly Kripps ◽  
Christina Chambers ◽  
Michele Rapp ◽  
Naomi J. L. Meeks ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive ◽  
De Novo ◽  
Dominant Negative ◽  
Adrenal Hyperplasia ◽  
Primary Adrenal Insufficiency ◽  
Heterozygous Variant ◽  
Novel Variant ◽  
Autosomal Recessive Condition ◽  
Clinically Significant

Lipoid congenital adrenal hyperplasia (LCAH) is typically inherited as an autosomal recessive condition. There are 3 reports of individuals with a dominantly acting heterozygous variant leading to a clinically significant phenotype. We report a 46,XY child with a novel heterozygous intronic variant in STAR resulting in LCAH with an attenuated genital phenotype. The patient presented with neonatal hypoglycemia and had descended testes with a fused scrotum and small phallus. Evaluation revealed primary adrenal insufficiency with deficiencies of cortisol, aldosterone, and androgens. He was found to have a de novo heterozygous novel variant in STAR: c.65-2A>C. We report a case of a novel variant and review of other dominant mutations at the same position in the literature. Clinicians should be aware of the possibility of attenuated genital phenotypes of LCAH and the contribution of de novo variants in STAR at c.65-2 to the pathogenesis of that phenotype.

scholarly journals Imaging diagnosis of classical and new pneumoconiosis: predominant reticular HRCT pattern

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Akira Masanori
Keyword(s):  
Computed Tomography ◽  
Interstitial Lung Disease ◽  
Imaging Features ◽  
Imaging Findings ◽  
Imaging Diagnosis ◽  
High Resolution Computed Tomography ◽  
Pleural Fibrosis ◽  
Pathologic Findings ◽  
Characteristic Imaging ◽  
The Individual

AbstractOur understanding of the manifestations of pneumoconioses is evolving in recent years. Associations between novel exposures and diffuse interstitial lung disease have been newly recognized. In advanced asbestosis, two types of fibrosis are seen, probably related to dose of exposure, existence of pleural fibrosis, and the host factor status of the individual. In pneumoconiosis of predominant reticular type, nodular opacities are often seen in the early phase. The nodular pattern is centrilobular, although some in metal lung show perilymphatic distribution, mimicking sarcoidosis. High-resolution computed tomography enables a more comprehensive correlation between the pathologic findings and clinically relevant imaging findings. The clinician must understand the spectrum of characteristic imaging features related to both known dust exposures and to historically recent new dust exposures.

scholarly journals Typical and atypical CT chest imaging findings of novel coronavirus 19 (COVID-19) in correlation with clinical data: impact on the need to ICU admission, ventilation and mortality

2020 ◽  
Vol 51 (1) ◽  
Author(s):  
Doaa M. Emara ◽  
Nagy N. Naguib ◽  
M. A. Moustafa ◽  
Salma M. Ali ◽  
Amr Magdi El Abd
Keyword(s):  
Pleural Effusion ◽  
Complete Recovery ◽  
Clinical Findings ◽  
Mediastinal Lymphadenopathy ◽  
Imaging Features ◽  
Imaging Findings ◽  
Icu Admission ◽  
Mortality Outcome ◽  
Novel Coronavirus ◽  
Contrast Ct

Abstract Background The aim of this study was to highlight the typical and atypical chest CT imaging features at first presentation in 120 patients who were proved to be COVID-19 by PCR and to correlate these findings with the need for ICU admission, ventilation, and mortality. We retrospectively included 120 patients 71 males (59.2%) and 49 females (40.8%) with a mean age of 47.2 ± 14.4 years. Patients subjected to clinical assessment, CBC, PCR for COVID-19, and non-contrast CT chest at first presentation. Typical and atypical imaging findings were reported and correlated with the clinical findings of the patients, the need for ICU admission, ventilation, and mortality. Results Clinically, fever was seen in 112 patients followed by dry cough in 108 patients and malaise in 35 patients. The final outcome was complete recovery in 113 cases and death in 7 cases. Typical CT findings included bilateral peripheral ground-glass opacities (GGO) in 74.7%, multilobar affection in 92.5% while atypical findings such as homogeneous consolidation, pleural effusion, mediastinal lymphadenopathy, and single lobar affection were found in 13.4, 5, 6.7, and 7.5% respectively. A statistically significant association between the presence of white lung, pleural effusion, peripheral GGO, and the need for ICU admission as well as mechanical ventilation was noted. The death was significantly higher among elderly patients; however, no significance was found between the imaging features and mortality. Conclusion CT features at first presentation can predict the need for ICU admission and the need for ventilation but cannot predict the mortality outcome of the patients.

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