Epilepsy with Myoclonic Absence in a Patient with COL4A1-Related Disorder: A Case Report

Introduction. The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and variable levels of deafness, disturbances of vision and renal function impairment. A common genetic background of these disorders are mutations in MYH9 gene, coding for the nonmuscle myosin heavy chain IIA. Differential diagnosis is important for the adequate treatment strategy. The aim of this case report was to present a patient with MYH9 disorder in Serbia. Case report. A 16-year-old boy was referred to our hospital with the diagnosis of resistant immune thrombocytopenia for splenectomy. Thrombocytopenia was incidentally discovered at the age of five. The treatment with corticosteroids on several occasions was unsuccessful. Although the platelet count was below 10 ? 109/L, there were no bleeding symptoms. Besides thrombocytopenia with giant platelets, on admission the patient also suffered sensorineuronal hearing loss and proteinuria. The diagnosis was confirmed with immunofluorescence and genetic analyses. Conclusion. Early recognition of MYH9-related diseases is essential to avoid unnecessary and potentially harmful treatments for misdiagnosed immune thrombocytopenia, and also for timely and proper therapy in attempt to delay end-stage renal failure and improve quality of life.

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Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.61386 ◽

2019 ◽

Vol 182 (1) ◽

pp. 268-268 ◽

Cited By ~ 1

Author(s):

G. Cappuccio ◽

M. Pinelli ◽

A. Torella ◽

M. Alagia ◽

R. Auricchio ◽

...

Keyword(s):

Case Report ◽

Phenotype Correlation ◽

Related Disorder ◽

Genotype Phenotype Correlation

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Reversible intracranial hypertension following treatment of an extracranial vascular malformation: case report

Journal of Neurosurgery Pediatrics ◽

10.3171/2018.10.peds18235 ◽

2019 ◽

Vol 23 (3) ◽

pp. 369-373 ◽

Cited By ~ 1

Author(s):

Katie Pricola Fehnel ◽

Jennifer Klein ◽

Benjamin C. Warf ◽

Edward R. Smith ◽

Darren B. Orbach

Keyword(s):

Case Report ◽

Intracranial Hypertension ◽

Pediatric Population ◽

Superficial Temporal Artery ◽

Vascular Anomaly ◽

Temporal Artery ◽

Normal Pressure ◽

Third Ventriculostomy ◽

Related Disorder ◽

Csf Diversion

Pediatric hydrocephalus is a well-studied and still incompletely understood entity. One of the physiological means by which hydrocephalus and intracranial hypertension evolve is through perturbations to normal vascular dynamics. Here the authors report a unique case of an extracranial vascular anomaly resulting in persistently elevated intracranial pressures (ICPs) independent of CSF diversion in a patient with a Joubert syndrome–related disorder. The patient developed worsening intracranial hypertension after successful CSF diversion of Dandy-Walker malformation–associated hydrocephalus via endoscopic third ventriculostomy–choroid plexus cauterization (ETV/CPC). Vascular workup and imaging revealed an extracranial arteriovenous fistula of the superficial temporal artery at the site of a prior scalp intravenous catheter. Following microsurgical obliteration of the lesion, ICP normalized from > 30 cm H2O preoperatively to 11 cm H2O postoperatively. A repeat lumbar puncture at 4 months postoperatively again demonstrated normal pressure, and the patient remained asymptomatic for 9 months. Recurrent symptoms at 9 months were attributed to inadequate CSF diversion, and the patient underwent ventriculoperitoneal shunt placement. This is the first report of an extracranial-to-extracranial vascular anastomosis resulting in intracranial hypertension. This case report demonstrates the need to consider extracranial vascular anomalies as potential sources of persistently elevated ICP in the syndromic pediatric population.

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Preoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature

Transfusion ◽

10.1111/trf.13366 ◽

2015 ◽

Vol 56 (2) ◽

pp. 349-353 ◽

Cited By ~ 2

Author(s):

Yekaterina Eichel ◽

Lee Marie Tormos ◽

Jerry E. Squires

Keyword(s):

Case Report ◽

Acute Appendicitis ◽

Myosin Heavy Chain ◽

Heavy Chain ◽

Review Of Literature ◽

Related Disorder

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CACNA1A-related disorder and intrafamilial variability: a case report

Molecular Genetics and Metabolism ◽

10.1016/s1096-7192(21)00312-7 ◽

2021 ◽

Vol 132 ◽

pp. S145-S146

Author(s):

Casey Crawford ◽

Nancy Pinnell ◽

Dallas Reed ◽

John Gaitanis ◽

Neha Bhatia

Keyword(s):

Case Report ◽

Related Disorder ◽

Intrafamilial Variability

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Joubert syndrome related disorder (JSRD): a case report and review of literature

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20171743 ◽

2017 ◽

Vol 4 (3) ◽

pp. 1124

Author(s):

Seema Sharma ◽

Ajay Sharma ◽

Vipin Sharma ◽

Sandesh Guleria

Keyword(s):

Case Report ◽

Early Intervention ◽

Eye Movements ◽

Joubert Syndrome ◽

Accurate Diagnosis ◽

Review Of Literature ◽

Radiological Findings ◽

Related Disorder ◽

Molar Tooth Sign ◽

Intervention Measures

Joubert syndrome and related disorder (JSRD) is a rare disorder of midline structure of brain having characteristic clinical and neuro-radiological findings. The hallmark of diagnosis is molar tooth sign (MTS). Early accurate diagnosis can help in planning early intervention measures to reduce the morbidity. We are hereby presenting a case of eight months old female infant with abnormal eye movements since birth along with developmental delay. Clinical and radiological evidence proved that child is having Joubert syndrome related disorder.

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Pearson syndrome masquerading diamond blackfan anemia: a case report

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20184309 ◽

2018 ◽

Vol 5 (6) ◽

pp. 2353

Author(s):

Sandip P. Bartakke ◽

Abhilasha Ashok Sampagar ◽

Mahesh Kamate ◽

Nishant Mittal

Keyword(s):

Case Report ◽

Pancreatic Enzyme ◽

Mitochondrial Disorder ◽

Signs And Symptoms ◽

Interventional Therapy ◽

Related Disorder ◽

Pearson Syndrome ◽

Enzyme Replacement ◽

Diamond Blackfan Anemia ◽

Pancreatic Enzyme Replacement Therapy

Pearson syndrome (PS) is rare and often fatal multisystemic mitochondrial disorder. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome (KSS). 13-month-old male child presented with transfusion dependent anemia since the age of 3 months and was initially labeled as a case of Diamond Black fan Anemia. Mitochondrial and pancreatic enzyme replacement therapy. Through this case report, we attempt to address the fact that possibility of PS, which is often labeled as DBA in initial stages, should be considered in cases of congenital anemia of uncertain etiology. Early diagnosis of PS and interventional therapy in the form of mitochondrial and pancreatic replacement can significantly prolong survival and improve quality of life.

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A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

BMC Neurology ◽

10.1186/s12883-021-02380-9 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Natalie C. Lippa ◽

Subit Barua ◽

Vimla Aggarwal ◽

Elaine Pereira ◽

Jennifer M. Bain

Keyword(s):

Case Report ◽

Intellectual Disability ◽

Short Stature ◽

Developmental Delay ◽

De Novo ◽

Phenotypic Variability ◽

Missense Variant ◽

Global Developmental Delay ◽

Related Disorder ◽

Patient Reported

Abstract Background Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties and mild intellectual disabilities, but full phenotypic descriptions were often incomplete. Recently, detailed phenotypic features of five affected females with de novo variants were described. (Clin Genet 98:43–55, 2020) Four individuals had a protein truncating variant and 1 individual had a missense variant. All five individuals had developmental delay/intellectual disability and three neurological features. Case presentation Here we report a three-year-old female with global developmental delay, hypotonia and ataxia. Through whole exome sequencing, a de novo c.1516A > G (p.Met506Val) variant in KDM5C was identified. This missense variant is in the jumonji-C domain of this multi domain protein where other missense variants have been previously reported in KDM5C related disorder. The KDM5C gene is highly intolerant to functional variation which suggests its pathogenicity. The probands motor delays and language impairment is consistent with other reported female patients with de novo variants in KDM5C. However, other features reported in females (distinctive facial features, skeletal abnormalities, short stature and endocrine features) were absent. To the best of our knowledge, our proband is the first female patient reported with a diagnosis of ataxia. Conclusions This case report provides evidence for an emerging and phenotypic variability that adds to the literature of the role of KDM5C in females with neurodevelopmental disorders as well as movement disorders.

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Pembrolizumab-Induced Isolated Cranial Neuropathy: A Rare Case Report and Review of Literature

Frontiers in Neurology ◽

10.3389/fneur.2021.669493 ◽

2021 ◽

Vol 12 ◽

Author(s):

Francesco Bruno ◽

Rosa Antonietta Palmiero ◽

Bruno Ferrero ◽

Federica Franchino ◽

Alessia Pellerino ◽

...

Keyword(s):

Case Report ◽

Rare Case ◽

Lung Tumor ◽

Neurological Complication ◽

Cranial Nerves ◽

Molecular Profile ◽

Cranial Neuropathy ◽

Related Disorder ◽

Increased Risk ◽

Acute Neuropathy

Introduction: Anti-PD1 agents are widely used in the treatment of solid tumors. This has prompted the recognition of a class of immune-related adverse events (irAEs), due to the activation of autoimmune T-cells. Pembrolizumab is an anti-PD1 agent, which has been related to an increased risk of various neurological irAE (n-irAEs). Here, we present a rare case of pembrolizumab-induced neuropathy of cranial nerves.Case Report: A 72-year-old patient was diagnosed with a lung adenocarcinoma in February 2018 (EGFR–, ALK–, and PDL1 90%). According to the molecular profile, pembrolizumab was started. After three administrations, the patient developed facial paresis, ptosis, ophthalmoplegia, and dysphonia. As brain metastases and paraneoplastic markers were excluded, a drug-related disorder was suspected and pembrolizumab was discontinued. A nerve conduction study and electromyography excluded signs of neuropathy and myopathy at four limbs, and repetitive nerve stimulation was negative. However, altered blink reflex and nerve facial conduction were consistent with an acute neuropathy of the cranial district. Thus, the patient was treated with two cycles of intravenous immunoglobulins (IVIg), which rapidly allowed improvement of both symptoms and neurophysiological parameters. However, the patient died in October 2018 for a progression of lung tumor.Discussion: Only 16 cases of pembrolizumab-related neuropathies have been described so far. Our case is of particular interest for the isolated involvement of cranial nerves and the prompt response to IVIg.Conclusion: N-irAEs are insidious conditions that require solid knowledge of onco-immunotherapy complications: it is mandatory not to delay any treatment that would potentially modify the course of a neurological complication.

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