Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome

INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.

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Adult presentation of combined unilateral atresia of the right proximal pulmonary artery and left patent ductus arteriosus: Case report and embryological considerations

International Journal of Cardiology ◽

10.1016/j.ijcard.2008.11.125 ◽

2010 ◽

Vol 141 (1) ◽

pp. e4-e7 ◽

Cited By ~ 8

Author(s):

Marcus-André Deutsch ◽

Sven F. Thieme ◽

Martin Hinterseer ◽

Thorsten R.C. Johnson ◽

Achim Pfosser ◽

...

Keyword(s):

Case Report ◽

Pulmonary Artery ◽

Patent Ductus Arteriosus ◽

Ductus Arteriosus ◽

The Right ◽

Adult Presentation ◽

Patent Ductus

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Case report of a successful pregnancy in a cystic fibrosis patient with the c.1521_1523delCTT/c.3718-2477C>t genotypes

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2020-0018 ◽

2020 ◽

Vol 23 (2) ◽

pp. 103-106

Author(s):

VL Spasova ◽

LI Koleva ◽

DI Toncheva ◽

VI Karamisheva

Keyword(s):

Cystic Fibrosis ◽

Case Report ◽

Bacterial Colonization ◽

Genetic Disorder ◽

Vital Signs ◽

Forced Expiratory Volume ◽

Rare Mutation ◽

Normal Limits ◽

The Right ◽

Common Genetic Disorder

Abstract The aim of this case report was to show the consequences of pregnancy in a cystic fibrosis (CF) patient with a rare mutation. We present a case of a patient with CF, pregnant for the second time, who gave birth to a healthy child. Her mutation status revealed the presence of relatively rare mutation c.3718-2477C>T that is associated with a milder phenotype of the disease. During pregnancy, her vital signs were within normal limits. She had no exacerbations after the third gestational month. Cystic fibrosis is the most common genetic disorder among Caucasians. Over the last few decades, the survival rate and the lifespan of patients with CF have increased progressively. This is why more affected women are choosing to become pregnant. Predictive factors for the pregnancy outcome are basal pulmonary function [measured by forced expiratory volume/1 second (FEV1)], nutritional status [measured by body mass index (BMI)], diabetes and bacterial colonization. The report of our case emphasizes the need for establishing the exact mutations in CF patients who plan to become pregnant in order to predict the possible outcomes of this specific period of life. Moreover, genetic counseling is strongly recommended for the right understanding of the pregnancy risks in such cases.

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Neurorehabilitation of alexia without agraphia - a case report

Medicinski pregled ◽

10.2298/mpns1810311t ◽

2018 ◽

Vol 71 (9-10) ◽

pp. 309-313

Author(s):

Gordana Tomic ◽

Jelena Nikolic ◽

Silvana Punisic ◽

Misko Subotic ◽

Jasna Zidverc-Trajkovic

Keyword(s):

Case Report ◽

Corpus Callosum ◽

Oral Reading ◽

Reading Ability ◽

Chronic Hypertension ◽

Temporal Region ◽

Auditory Comprehension ◽

Disconnection Syndrome ◽

Reading Technique ◽

The Right

Introduction. Alexia without agraphia is an impairment of reading ability. Speech, auditory comprehension, repetition and writing are relatively intact. Due to a damage of the splenium of corpus callosum, alexia without agraphia is considered to be an interhemispheric disconnection syndrome. Case Report. We presented a 71-year-old male, with chronic hypertension, diabetes mellitus and dyslipidemia. The magnetic resonance imaging showed a lesion in the left medial temporal region, including the equilateral thalamus, posterior cingulate gyrus, splenium of corpus callosum, lingual occipital gyrus, and the tail of the hippocampus. Lacunar ischemia was found on the right side of cerebellum. The neuro-linguistic diagnostic protocol included the Mini Mental State Examination, Boston Diagnostic Aphasia Examination, Boston Naming Test and phonemic and category fluency tests. We have also designed a clinical protocol for color recognition assessment. The results showed a mild cognitive impairment related to the time and space orientation, delayed memory and reading. On the speech and language levels, a severe acquired alexia without agraphia was registered which was not associated with other language modalities. Conclusion. The neuro-linguistic tests and clinical techniques provide a rather reliable diagnostic criteria, which is the basis for neuro-rehabilitation. The rehabilitation protocol refers to training techniques: tactile-kinesthetic recognition of graphemes and application of various reading techniques, such as letter-by-letter reading, Multiple Oral Re-reading, melodic intonation therapy and oral reading technique in order to facilitate rehabilitation of reading.

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Case Report: Corpus callosal apraxia following acute ischemic stroke

F1000Research ◽

10.12688/f1000research.15059.1 ◽

2018 ◽

Vol 7 ◽

pp. 731

Author(s):

Santhosh Narayanan ◽

Gomathy Subramaniam

Keyword(s):

Computed Tomography ◽

Ischemic Stroke ◽

Case Report ◽

Corpus Callosum ◽

The Body ◽

Cerebral Hemispheres ◽

Diagnostic Challenge ◽

Compact Structure ◽

Ischemic Infarct ◽

The Right

The corpus callosum is a compact structure that connects the right and left cerebral hemispheres. Here we report the case of a 50 year old woman who presented with features of corpus callosum apraxia, initially mistaken as psychiatric symptom by her relatives. Computed tomography and magnetic resonance of brain confirmed the diagnosis of acute ischemic infarct in the body of the corpus callosum. Isolated stroke involving the corpus callosum is rarely reported in literature and is a diagnostic challenge due to atypical clinical features.

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Different clinical features in a family – A case report

Medicinski pregled ◽

10.2298/mpns1912375r ◽

2019 ◽

Vol 72 (11-12) ◽

pp. 375-378

Author(s):

Svetlana Ruzicka-Kaloci ◽

Marija Stamenkovic ◽

Zeljko Zivanovic ◽

Aleksandar Jovanovic ◽

Tamara Rabi-Zikic ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Case Report ◽

Magnetic Resonance ◽

Corpus Callosum ◽

Neurological Examination ◽

Autosomal Dominant ◽

Monogenic Disease ◽

Resonance Imaging ◽

Causal Therapy ◽

The Right

Introduction. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is the most common monogenic disease of small blood vessels. It commonly presents with repeated epi?sodes of brain ischemia leading to progressive subcortical vascular dementia, migraine attacks and mood disorders. Case Report. A 46-year-old male patient was admitted with clinical presentation of stroke. The neurological examination revealed mild divergent strabismus and a left homonymous hemianopia. Brain magnetic resonance imaging showed subacute infarction in the region of the posterior cerebral artery to the right, as well as similar lesions in the splenium of the corpus callosum, numerous mostly confluent and some discrete T2-weighted/fluid attenuated inversion recovery hyperintense lesions of the centrum semiovale, corona radiata, frontoparietal subcortex, capsula externa, periventricularly at the level of occipital and temporal horns of lateral chambers bilaterally, and small punctiform lesions in the region of the corpus callosum. The magnetic resonance angiography findings were normal. The patient?s brother underwent neurological examination at the age of 42 due to severe headaches, double vision, confusion, and numbness in the right arm. The magnetic resonance imaging of the endocranium showed multifocal confluent ischemic lesions predominantly in the frontal and temporal lobes, as well as focal microangiopathic changes in the gangliocapsular regions bilaterally in the brainstem and cerebellum. In agreement with the patient and his brother, genetic analyses were performed in both of them, and a mutation in exon 3 of the neurogenic locus notch homolog protein 3 gene was confirmed (c.505C > t, p.R169C). Conclusion. Although there is no causal therapy, it is very important to diagnose cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in order to implement measures to prevent cerebrovascular diseases in both patients and their family members.

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Bilateral Cryptophthalmus: First Case Report from Nepal

Nepalese Journal of Ophthalmology ◽

10.3126/nepjoph.v13i2.34372 ◽

2021 ◽

Vol 13 (2) ◽

pp. 211-218

Author(s):

Nayana Pant ◽

Subash Bhatta ◽

Gulshan Bahadur Shrestha ◽

Madhu Thapa

Keyword(s):

Case Report ◽

Genetic Disorder ◽

Ocular Tissue ◽

Amniotic Membrane Transplantation ◽

Upper Eyelid ◽

First Case ◽

Continuous Sheet ◽

Male Neonate ◽

The Right ◽

Orbital Region

Introduction: Cryptophthalmus is characterized by a partial or complete casing of the eyeball by the skin. Cryptophthalmus alongside other systemic abnormalities is well-known as Fraser syndrome. It is an unusual genetic disorder with limited literature. The complexities of disease and limited experience pose challenges in its management. Case: A two-day-male neonate was brought by his parents with a complaint of swelling in the right orbital region and deformed left eye since birth. Examination revealed bilobed globular swelling in the right orbital region covered by a continuous sheet of skin from forehead to cheek with no visible ocular tissue. On the left side, there was absence of upper lid margin and eyelashes and superior symblepharon. He also had bilateral ear abnormalities and right renal agenesis. Surgical intervention was done. On the right side, removal of the globe and cyst was done. On the left side, upper eyelid reconstruction with symblepharon release was done with amniotic membrane transplantation. Conclusions: The management of cryptophthalmus is challenging. Reconstructive surgeries allow cosmesis but useful vision is rarely gained. This is the first case report from Nepal to date to the best of our knowledge.

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Neonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report

Urology ◽

10.1016/j.urology.2020.11.035 ◽

2020 ◽

Author(s):

Angelena Edwards ◽

Niccolo M. Passoni ◽

Rebecca Collins ◽

Smitha Vidi ◽

Jyothsna Gattineni ◽

...

Keyword(s):

Case Report ◽

Early Diagnosis ◽

Ambiguous Genitalia ◽

Serum Electrolyte ◽

Drash Syndrome

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Popliteal artery thrombosis secondary to a tibial osteochondroma

VASA ◽

10.1024/0301-1526/a000101 ◽

2011 ◽

Vol 40 (3) ◽

pp. 251-255 ◽

Cited By ~ 4

Author(s):

Gruber-Szydlo ◽

Poreba ◽

Belowska-Bien ◽

Derkacz ◽

Badowski ◽

...

Keyword(s):

Case Report ◽

Magnetic Resonance Angiography ◽

Popliteal Artery ◽

Doppler Ultrasonography ◽

Histopathological Examination ◽

Previous History ◽

Plain Radiography ◽

Artery Thrombosis ◽

History Of ◽

The Right

Popliteal artery thrombosis may present as a complication of an osteochondroma located in the vicinity of the knee joint. This is a case report of a 26-year-old man with symptoms of the right lower extremity ischaemia without a previous history of vascular disease or trauma. Plain radiography, magnetic resonance angiography and Doppler ultrasonography documented the presence of an osteochondrous structure of the proximal tibial metaphysis, which displaced and compressed the popliteal artery, causing its occlusion due to intraluminal thrombosis..The patient was operated and histopathological examination confirmed the diagnosis of osteochondroma.

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