Dyke-Davidoff-Masson Syndrome: A Delayed Diagnosis of an Acquired Variant

Dyk-Davidof-Masson Syndrome (DDMS) is an important cause of intractable and drug-resistant seizures. It has varied clinical presentation and history with distinct neuroimaging features. Here, we describe a female patient presented with recurrent intractable convulsion, mental retardation, hemiparesis, and characteristic neuroimaging features of cerebral hemiatrophy, calvarial thickening, and ipsilateral hyperpneumatization of the frontal sinuses which is suggestive of DDMS. Early institution of neuroimaging in patients with intractable epilepsy will make early diagnosis and better outcome.

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Osteomyelitis of the Patella in a 10-Year-Old Girl: A Case Report and Review of the Literature

Case Reports in Orthopedics ◽

10.1155/2017/6573271 ◽

2017 ◽

Vol 2017 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Matthias Sperl ◽

Michael Novak ◽

Daniela Sperl ◽

Martin Svehlik ◽

Georg Singer ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Female Patient ◽

Clinical Presentation ◽

Delayed Diagnosis ◽

Diagnostic Procedures ◽

Long Bones ◽

Review Of The Literature ◽

Present Case Report ◽

Variable Clinical Presentation

The incidence of osteomyelitis constantly declines. While the disease most commonly affects the long bones, involvement of the patella is rarely seen. Due to this rarity and the variable clinical presentation, diagnosis is often delayed. The present case report describes a 10-year-old female patient with a delayed diagnosis of patella osteomyelitis. The diagnostic procedures and the treatment regimen are described. Additionally, a detailed literature review of the available publications reporting osteomyelitis of the patella in children is presented.

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Adult Presentation of Dyke-Davidoff-Masson Syndrome: A Case Report

Case Reports in Neurology ◽

10.1159/000443521 ◽

2016 ◽

Vol 8 (1) ◽

pp. 20-26 ◽

Cited By ~ 12

Author(s):

Ujjawal Roy ◽

Ajay Panwar ◽

Adreesh Mukherjee ◽

Debsadhan Biswas

Keyword(s):

Mental Retardation ◽

Rare Disease ◽

Medical Literature ◽

Facial Asymmetry ◽

Rare Entity ◽

Radiological Findings ◽

Cerebral Hemiatrophy ◽

Long Duration ◽

Frontal Sinuses ◽

Adult Presentation

Dyke-Davidoff-Masson syndrome (DDMS) is a rare disease which is clinically characterized by hemiparesis, seizures, facial asymmetry, and mental retardation. The classical radiological findings are cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses. This disease is a rare entity, and it mainly presents in childhood. Adult presentation of DDMS is unusual and has been rarely reported in the medical literature. Key Messages: DDMS is a rare disease of childhood. However, it should be kept in mind as a diagnostic possibility in an adult who presents with a long duration of progressive hemiparesis with seizures and mental retardation. Cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses are diagnostic for this illness on brain imaging.

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Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100123568 ◽

1992 ◽

Vol 50 (1) ◽

pp. 632-633

Author(s):

Line Buhl ◽

David Muirhead

Keyword(s):

Mental Retardation ◽

Clinical Picture ◽

Neurological Disorder ◽

Clinical Presentation ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Form ◽

Lysosomal Disease ◽

Juvenile Form ◽

Progressive Encephalopathy ◽

Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

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Refractory Ascites as the Only Presenting Symptom of Chronic Calcified Constrictive Pericarditis: A Diagnostic Challenge

The Heart Surgery Forum ◽

10.1532/hsf98.2013251 ◽

2014 ◽

Vol 17 (1) ◽

pp. 42

Author(s):

Shi-Min Yuan

Keyword(s):

Computed Tomography ◽

Liver Cirrhosis ◽

Female Patient ◽

Constrictive Pericarditis ◽

Delayed Diagnosis ◽

Young Female ◽

Refractory Ascites ◽

Diagnostic Challenge ◽

Massive Ascites ◽

History Of

Extracardiac manifestations of constrictive pericarditis, such as massive ascites and liver cirrhosis, often cover the true situation and lead to a delayed diagnosis. A young female patient was referred to this hospital due to a 4-year history of refractory ascites as the only presenting symptom. A diagnosis of chronic calcified constrictive pericarditis was eventually established based on echocardiography, ultrasonography, and computed tomography. Cardiac catheterization was not performed. Pericardiectomy led to relief of her ascites. Refractory ascites warrants thorough investigation for constrictive pericarditis.

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Invasive Group A Streptococcal infections in children

Current Pediatric Reviews ◽

10.2174/1573396316666200704152246 ◽

2020 ◽

Vol 16 ◽

Author(s):

Molla Imaduddin Ahmed ◽

Rosalind V Saunders ◽

Srini Bandi

Keyword(s):

Early Diagnosis ◽

Management Practices ◽

Clinical Presentation ◽

Streptococcal Infections ◽

Invasive Group ◽

Children's Hospital ◽

Good Outcome ◽

Children’S Hospital ◽

Group A

: We reviewed the clinical presentation and management of children with Invasive group A streptococcal infections admitted to our tertiary Children’s Hospital in the last eight years. Our study highlighted the varied symptomatology and management practices in children with iGAS and showed that early diagnosis and prompt initiation of appropriate antibiotics for iGAS can help in resolution of symptoms and good outcome.

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Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01900-7 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Yu-Liang Jiang ◽

Xiao-Dong Xu ◽

Bai-Rong Li ◽

En-Da Yu ◽

Zi-Ye Zhao ◽

...

Keyword(s):

Clinical Presentation ◽

Novel Mutation ◽

Delayed Diagnosis ◽

Personal History ◽

Pathological Examination ◽

The Novel ◽

Novel Mutations ◽

The Family ◽

Genetic Level ◽

Peutz Jeghers Syndrome

Abstract Objective To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test. Clinical presentation and intervention PJS was suspected in 3 families with tortuous medical courses. Two of them had relatives departed due to polyposis or colon cancer without pathological results, and the other one had been diagnosed as hyperplastic polyposis before. Diagnosis of PJS was confirmed by endoscopy and repeated pathological examinations, and the STK11 mutation test finally confirmed the diagnosis at genetic level, during which 3 novel mutation were detected (536C > A, 373_374insA, 454_455insGGAGAAGCGTTTCCCAGTGTGCC). Conclusion Early diagnosis of PJS is important and may be based on a family history with selective features among family members, and the pathological information is the key. The novel mutations also expand the STK11 variant spectrum.

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Methionine Synthase Deficiency: Variable Clinical Presentation And Benefit Of Early Diagnosis And Treatment

Journal of Inherited Metabolic Disease ◽

10.1002/jimd.12448 ◽

2021 ◽

Author(s):

Kimberly A. Kripps ◽

Leighann Sremba ◽

Austin A. Larson ◽

Johan L.K. Van Hove ◽

Hoanh Nguyen ◽

...

Keyword(s):

Early Diagnosis ◽

Clinical Presentation ◽

Methionine Synthase ◽

Diagnosis And Treatment ◽

Variable Clinical Presentation

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MR and CT imaging in the Dyke-Davidoff-Masson syndrome: report of three cases and contribution to pathogenesis and differential diagnosis

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x1998000500016 ◽

1998 ◽

Vol 56 (4) ◽

pp. 803-807 ◽

Cited By ~ 21

Author(s):

PAULO HENRIQUE AGUIAR ◽

WEI LIU CHING ◽

HELIO LEITÃO ◽

F. ISSA ◽

GUILHERME LEPSKI ◽

...

Keyword(s):

Differential Diagnosis ◽

Mental Retardation ◽

Brain Injury ◽

Paranasal Sinuses ◽

Facial Asymmetry ◽

Cerebral Injury ◽

Radiological Features ◽

Cerebral Hemiatrophy ◽

The Brain ◽

Syndrome Report

Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.

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Cardiac Sarcoidosis as an Uncommon Etiology for Posterior Circulation Stroke Presenting with Alexia without Agraphia

Case Reports in Neurological Medicine ◽

10.1155/2018/3418465 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3

Author(s):

Mohankumar Kurukumbi ◽

Lauren Gardiner ◽

Shevani Sahai ◽

John W. Cochran

Keyword(s):

Case Report ◽

Early Diagnosis ◽

Cardiac Involvement ◽

Clinical Presentation ◽

Cardiac Sarcoidosis ◽

Systemic Disease ◽

Pulmonary Sarcoidosis ◽

Posterior Circulation ◽

Presenting Symptoms ◽

Memory And Recall

Sarcoidosis is a systemic disease with cardiac involvement occurring in 20-50% of cases. Cardiogenic stroke caused by cardiac sarcoidosis, especially PCA infarction, is a rare clinical presentation that necessitates timely diagnosis and may warrant treatment prophylaxis against CVA. In this case report, we describe a 54-year-old Caucasian male presenting with left PCA stroke in the setting of cardiac and pulmonary sarcoidosis, and hypertension. His presenting symptoms included right partial hemianopia, difficulty with naming, memory, and recall, and alexia without agraphia. Cardiogenic stroke is an uncommon manifestation of cardiac sarcoidosis, and given the disabling nature of these sequelae, the importance of early diagnosis and prevention with anticoagulation is crucial to prevent morbidity and mortality.

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