Achondroplasia: A Rare Syndrome

CONTEXT: Spinal cord compression due to extramedullary hematopoiesis is a well-described but rare syndrome encountered in several clinical hematologic disorders, including <FONT FACE="Symbol">b</font>-thalassemia. CASE REPORT: We report the case of a patient with intermediate <FONT FACE="Symbol">b</font>-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. DISCUSSION: Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms.

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Factor X Inhibitor: A Fulminant Presentation and Fatal Course of a Rare Syndrome in a 59-Year-Old Male

Acta Haematologica ◽

10.1159/000342115 ◽

2013 ◽

Vol 129 (1) ◽

pp. 40-44 ◽

Cited By ~ 3

Author(s):

Russell Gollard ◽

Syed Rahman ◽

Ramalingam Ratnasabapathy

Keyword(s):

Factor X ◽

Rare Syndrome ◽

Fatal Course

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Bilateral ballism: A rare syndrome

Journal of Neurology ◽

10.1007/bf00313987 ◽

1986 ◽

Vol 233 (1) ◽

pp. 25-29 ◽

Cited By ~ 22

Author(s):

M. C. Hoogstraten ◽

J. P. W. F. Lakke ◽

M. J. Zwarts

Keyword(s):

Rare Syndrome

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Graham-Little Piccardi Lassueur Syndrome: case report

Anais Brasileiros de Dermatologia ◽

10.1590/s0365-05962012000500019 ◽

2012 ◽

Vol 87 (5) ◽

pp. 775-777 ◽

Cited By ~ 6

Author(s):

Raquel Bissacotti Steglich ◽

Renata Elise Tonoli ◽

Giselle Martins Pinto ◽

Fernanda Melo Müller ◽

Isabelle Maffei Guarenti ◽

...

Keyword(s):

Case Report ◽

Physical Examination ◽

Hair Follicles ◽

Rare Disorder ◽

Rare Syndrome ◽

Scarring Alopecia ◽

History Of

A 33-year-old woman presented with a 3-year history of progressive alopecia of the scalp. Past treatment with hydroxicloroquine did not show improvement. Physical examination revealed multiple areas of alopecia with atrophic aspect of the scalp, and axillary and pubic hypotrichosis. Dermoscopy showed hyperkeratosis and accentuation of follicular ostia. Anatomopathological examination revealed decrease in the number of hair follicles, upper perifollicular infiltrate and areas with fibrosis. The Piccardi-Lassueur-Graham-Little syndrome is a rare disorder, characterized by the triad of multifocal scarring alopecia of the scalp, keratotic follicular eruption and hypotrichosis of axillary and pubic regions. Management is a challenge and many medications tried have controversial results. We report a case of this rare syndrome which improved with corticoids.

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Chilaiditi syndrome in a patient with urological problems: Incidental diagnosis on computed tomography

Canadian Urological Association Journal ◽

10.5489/cuaj.165 ◽

2012 ◽

Vol 6 (2) ◽

Author(s):

Cevahir Özer ◽

Seda Zenger

Keyword(s):

Computed Tomography ◽

Small Intestine ◽

Abdominal Pain ◽

Respiratory Distress ◽

Incidental Diagnosis ◽

Rare Syndrome ◽

Chilaiditi Syndrome ◽

Chilaiditi’S Syndrome ◽

Chilaiditi's Syndrome

A rare syndrome, Chilaiditi’s syndrome is interposition of the colon only or with the small intestine in hepatodiaphragmatic area. It may be asymptomatic, but it may also present with symptoms, such as abdominal pain, nausea, vomiting, constipation and respiratory distress. We present a patient who was admitted with urological problems; he was incidentally diagnosed with Chilaiditi’s syndrome

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Klippel–Trenaunay Syndrome: Clinical Features and Imaging of a Rare Syndrome

Annals of International medical and Dental Research ◽

10.21276/aimdr.2017.3.4.pe4 ◽

2017 ◽

Vol 3 (4) ◽

Author(s):

S.K. Valinjkar ◽

Yogesh Mokase ◽

Pallavi Samariya

Keyword(s):

Clinical Features ◽

Rare Syndrome ◽

Klippel Trenaunay Syndrome

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Ectrodactyly, ectodermal dysplasia, cleft lip and palate (EEC)—a rare syndrome

The Indian Journal of Pediatrics ◽

10.1007/bf02752774 ◽

1983 ◽

Vol 50 (3) ◽

pp. 337-340 ◽

Cited By ~ 1

Author(s):

H. Parkash ◽

M. S. Grewal ◽

S. S. Sidhu

Keyword(s):

Cleft Lip ◽

Cleft Lip And Palate ◽

Ectodermal Dysplasia ◽

Rare Syndrome

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Diagnosis of chronic post-hypoxic myoclonus in near hanging survivor: Case report

The Canadian Journal of Critical Care Nursing ◽

10.5737/23688653-32158 ◽

2020 ◽

Vol 32 (1) ◽

pp. 5-8

Author(s):

David Hersey

Keyword(s):

Critical Care ◽

Case Report ◽

Cognitive Function ◽

Attempted Suicide ◽

Late Onset ◽

Respiratory Arrest ◽

Critical Care Nurses ◽

Impaired Cognitive Function ◽

Rare Syndrome

A 39-year-old male, who attempted suicide by hanging, developed chronic myoclonus with intact cognitive function. Chronic post-hypoxic myoclonus is a rare syndrome that may develop after a respiratory arrest and it presents as late onset and persistent purposeful myoclonus with preserved or slightly impaired cognitive function. Increasing critical care nurses’ awareness of chronic post-hypoxic myoclonus will lead to earlier diagnosis of this rare syndrome.

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Thrombotic thrombocytopenic purpura: pathophysiology, treatment, and related nursing care

Critical Care Nurse ◽

10.4037/ccn1995.15.6.44 ◽

1995 ◽

Vol 15 (6) ◽

pp. 44-52

Author(s):

M Kajs-Wyllie

Keyword(s):

Critical Care ◽

Thrombotic Thrombocytopenic Purpura ◽

Nursing Care ◽

Critical Care Unit ◽

Family Members ◽

Vital Role ◽

Critical Care Nurses ◽

Thrombocytopenic Purpura ◽

Rare Syndrome ◽

Life Threatening

The patient diagnosed with TTP presents to the critical care unit with myriad life-threatening problems. Knowledge of the pathophysiology and treatment of this rare syndrome is essential to plan care appropriately. However, despite immediate diagnosis and intervention, the outcome may not be successful. Critical care nurses play a vital role in caring for these patients, as well as helping family members deal with this devastating disease.

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