Multiple Lentigines (Leopard) Syndrome with Chiara I Malformation

Agha, Amr; Hashimoto, Ken

doi:10.1111/j.1346-8138.1995.tb03437.x

Cited by 20 publications

(9 citation statements)

References 21 publications

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“…Finally, to our knowledge, this is the third report of the occurrence of Arnold Chiari malformation [24,25] and the second one of syringomyelia with LS [24]. Instead NS is already known to have a high incidence of spinal cord malformations [26] and there are some evidences that this is also true for NF1 [27].…”

Section: Discussionmentioning

confidence: 88%

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

et al. 2014

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BackgroundDiagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-Noonan syndrome. The follow-up of the proband, the clinical evaluation of his father together with a gene-by-gene testing approach led us to the proper diagnosis.Case presentationWe report a 8-year-old male with multiple café-au-lait macules, several lentigines and dysmorphic features that suggest Noonan syndrome initially diagnosed with Neurofibromatosis-Noonan syndrome. However, after a few years of clinical and ophthalmological follow-up, the absence of typical features of Neurofibromatosis type 1 and the lack of NF1 mutation led us to reconsider the original diagnosis. A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. Subsequently, the proband was also found to have type-1 Arnold-Chiari malformation in association with syringomyelia.ConclusionOur experience suggests that differential clinical diagnosis among RASopathies remains ambiguous and raises doubts on the current diagnostic clinical criteria. In some cases, genetic tests represent the only conclusive proof for a correct diagnosis and, consequently, for establishing individual prognosis and providing adequate follow-up. Thus, molecular testing represents an essential tool in differential diagnosis of RASophaties. This view is further strengthened by the increasing accessibility of new sequencing techniques.Finally, to our knowledge, the described case represents the third report of the occurrence of Arnold Chiari malformation and the second description of syringomyelia with LEOPARD syndrome.

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Section: Discussionmentioning

confidence: 88%

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

et al. 2014

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“…The 53-year-old Japanese man in this report is In the literature, other features associated with LEOPARD syndrome have been reported (5), including slowed peripheral nerve conduction (6), Gerstmann tetrad (7), Chiari I malformation (8), aneurysm (9,10) and intrahepatic portosystemic venous shunt (11). Moreover, Tojyo et al (12) reported a patient who had associated familial idiopathic brain calcification with dyschromatosis symmetrica hereditaria.…”

Section: Case Reportmentioning

confidence: 76%

Severe Cerebral Calcification in a Case of LEOPARD Syndrome

2008

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“…1 Since systemic alterations may not be all present simultaneously, Voron et al suggested a minimal set of characteristics for the diagnosis of this syndrome: besides lentigines, at least two other systemic alterations should be present, or simply three nonlentiginous alterations. 2 Lentiginosis is the most marking characteristic of this syndrome. It is manifested by means of multiple well-delineated brownish maculae, measuring approximately 5mm in diameter, concentrated mainly on the neck, trunk, upper extremities and below the knees.…”

Section: What Is This Syndrome? Leopard Syndromementioning

confidence: 99%

“…However, strabismus and nistagmus have been reported with some frequency. 2 Genitourinary alterations are more common among males, cryptorchidia being the most commonly reported manifestation. 5 In women, ovary hypoplasia is usually found, or, if there is a sinlge ovary, early puberty and late menopause occur.…”

Section: -5mentioning

confidence: 99%

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Cerqueira

Romiti

Belda

et al. 2006

An. Bras. Dermatol.

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A síndrome Leopard é distúrbio autossômico dominante de forte penetrância e expressividade variável. O epônimo Leopard foi criado em 1969 como regra mnemônica, ressaltando as características mais marcantes da síndrome: lentiginose, distúrbios de condução no ECG, hipertelorismo ocular, estenose pulmonar, anormalidade genital, retardo do crescimento e déficit auditivo sensorial. Relata-se o caso de uma menina de 15 anos com características da síndrome Leopard e discutem-se suas principais manifestações clínicas e genéticas.

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Multiple Lentigines (Leopard) Syndrome with Chiara I Malformation

Cited by 20 publications

References 21 publications

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

Severe Cerebral Calcification in a Case of LEOPARD Syndrome

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