Legius Syndrome: Diagnosis and Pathology

Nicolau syndrome (NS) is a rare complication characterized by tissue necrosis that occurs after parenteral injection of drugs. The exact pathogenesis is uncertain, but there are several hypotheses, including direct damage to the end artery, acute vasospasm and cytotoxic effects of the drug. Severe pain in the immediate post injection period and purplish discoloration of the skin with reticulate pigmentary pattern is characteristic of this syndrome. Diagnosis is mainly clinical and there is no standard treatment for the disease. Herein, we present a rare case of NS due to Diclofenac Sodium (Voltaren®) injection in an 80-year-old female suffering from Lower Respiratory Tract Infection (LRTI) who was managed conservatively. Keywords: Nicolau Syndrome, Embolia cutis medicamentosa, Voltaren, Diclofenac sodium

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ATYPICAL OR TYPICAL – CHALLENGES IN HEMOLYTIC UREMIC SYNDROME DIAGNOSIS AND MANAGEMENT

10.26226/morressier.58fa1768d462b80290b50d1b ◽

2017 ◽

Author(s):

Kathryn Taylor

Keyword(s):

Hemolytic Uremic Syndrome ◽

Diagnosis And Management ◽

Syndrome Diagnosis ◽

Uremic Syndrome

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Kaposi's sarcoma presenting as pulmonary disease in the acquired immunodeficiency syndrome: Diagnosis by lung biopsy

Human Pathology ◽

10.1016/s0046-8177(84)80130-6 ◽

1984 ◽

Vol 15 (10) ◽

pp. 999-1001 ◽

Cited By ~ 27

Author(s):

Gerald Nash ◽

Suzanne Fligiel

Keyword(s):

Pulmonary Disease ◽

Acquired Immunodeficiency Syndrome ◽

Lung Biopsy ◽

Kaposi's Sarcoma ◽

Kaposi’S Sarcoma ◽

Syndrome Diagnosis ◽

Acquired Immunodeficiency ◽

Immunodeficiency Syndrome

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Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

Italian Journal of Pediatrics ◽

10.1186/s13052-021-01004-9 ◽

2021 ◽

Vol 47 (1) ◽

Author(s):

Valentina Orlandi ◽

Paolo Cavarzere ◽

Laura Palma ◽

Rossella Gaudino ◽

Franco Antoniazzi

Keyword(s):

Genetic Analysis ◽

Precocious Puberty ◽

Central Precocious Puberty ◽

Neurofibromatosis Type ◽

Case Presentation ◽

New Variant ◽

Legius Syndrome ◽

Timing Of Puberty ◽

First Time

Abstract Background Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1). Case presentation We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome. Conclusions We report for the first time a case of central precocious puberty in a girl with Legius syndrome. The presence of central precocious puberty in a child with characteristic café-au-lait macules should suggest pediatricians to perform genetic analysis in order to reach a definitive diagnosis. Further studies on timing of puberty in patients with RASopathies are needed to better elucidate if this clinical association is casual or secondary to their clinical condition.

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