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Karyotype of proband with Neurofibromatosis type 1, Tuberous Sclerosis complex and Turner Syndrome. The arrow indicates the presence of only one X chromosome in Karyotype
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We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysi...
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... To the best of our knowledge, only five cases of coexistent TS and NF1 are reported in literature as of this writing and almost all of them presented with classic clinical features of both NF1 and TS. [1][2][3][4] In this report, we describe the case of a girl who did not have the classic presenting features of TS or NF1, but genetic tests revealed both these disorders and therefore required close supervision while receiving hormonal replacement. The case highlights important clinical considerations in the diagnosis and management of this dual pathology. ...
... Due to phenotypic similarities between the two syndromes like café-au-lait macules, many of the published cases presented as diagnostic dilemmas. [2][3][4] However, in all these cases, the diagnosis of NF1 could be made using the NIH diagnostic criteria. ...
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A 16.5-year-old Indian female presented with secondary amenorrhoea, cubitus valgus, scoliosis and multiple lentigines on the face. Karyotyping revealed mosaic Turner syndrome (TS) with 45, X/46, X iXq. She also had multiple café-au-lait macules and axillary freckles but no neurofibroma and did not fulfil the classic criteria for diagnosis of Neurofibromatosis-1 (NF1). Many of her macules were smaller than 15 mm in diameter, which might be due to her hypoestrogenic state. However, exome-sequencing found a pathologic variant consistent with NF1. She was started on daily oral estrogen, and oral progesterone for 10 days every month with close monitoring for neurofibroma and/or glioma expansion. Co-occurrence of NF1 and TS is extremely rare, TS and NF1 can both affect growth and puberty, cause different cutaneous and skeletal deformities, hypertension, vasculopathy and learning disabilities. Our case highlights the need for genetic testing in some cases with NF1 who do not strictly fulfil the NIH diagnostic criteria. We also emphasize the need for close monitoring during therapy with growth hormone, estrogen and progesterone due to the potential risk of tumour expansion in NF1.
... In particular, superficial calcifications are generally ruled out in CTs, but when particularly extensive, they can simulate gyral calcifications typical of Sturge-Weber syndrome [43]. It should however be considered that the association of other phakomatoses with TSC in a same patient could also be possible, probably due to the alteration of contiguous genes on a same chromosome [44,45]; a similar mechanism has also been proposed as the cause of the association between TSC and Moyamoya disease, a rare arteriopathy of the circle of Willis. Finally, one other possible cerebral vascular abnormality in TSC patients includes intracranial aneurysms, generally giant and fusiform, probably also linked to the same neural crest dysfunction to the base of all the phakomatoses (being smooth muscle cells of intracranial arteries originated from the neural crest) [46]. ...
IntroductionTuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality.Background
Neuroimaging is crucial for early diagnosis, monitoring, and management of these patients. While computed tomography is generally used as first-line investigation at emergency department, magnetic resonance imaging is the reference method to define central nervous system involvement and investigate subtle pathophysiological alterations in TSC patients. PurposeHere, we review the state-of-the-art knowledge in TSC brain imaging, describing conventional findings and depicting the role of advanced techniques in providing new insights on the disease, also offering an overview on future perspectives of neuroimaging applications for a better understanding of disease pathophysiology.
... 7 Four patients with overlapping phenotypic features of both NF1 and TS have been previously reported. [8][9][10] We report the fifth girl diagnosed with NF1 and TS who presented with café-au-lait macules. ...
Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple c afé-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.
... For instance, a deletion on exon 9 of the NF2 gene has been detected in a case of TS with rhabdoid meningioma [11] , and a case of TS with ganglioneuroblastoma was diagnosed with germline p53 mutation (Li-Fraumeni syndrome). Rare associations of TS with neurofibromatosis type 1 (NF-1) and tuberous sclerosis complex have been reported, too [6,16] . Knowledge about the association of CNS tumors with TS is important in terms of counseling parents on disease prognostic implications, and regarding clinical and screening practice during the follow-up of these patients [2] . ...
The Ullrich-Turner syndrome (complete or partial X-chromosome monosomy) has been found to be associated with an increased rate of some extragonadal neoplasms. Sporadic reports of the Turner syndrome with various brain tumors, including few cases of glioblastoma multiforme, have been found in the literature. However, published data are insufficient to establish a definite relationship between these tumors and the Turner syndrome. Herein, a rare case of primary pediatric glioblastoma multiforme in a 7-year-old girl with Turner's syndrome is reported, and various aspects regarding clinical and pathophysiological issues have been discussed. Although Turner's syndrome is not one of the congenital chromosomal abnormalities which demand routine CNS screening, neurological assessment may be of value in those with relevant clinical findings. © 2015 S. Karger AG, Basel.
Objetivos: Essa pesquisa objetivou determinar a frequência de anormalidades cromossômicas em pacientes atendidos no Ambulatório de Genética Médica de São Carlos, São Paulo, Brasil, e analisar os motivos de encaminhamento destes pacientes.Métodos: Trata-se de estudo retrospectivo, de corte transversal e abordagem quantitativa. Foi realizada revisão dos mapas de atendimento de todos os 792 pacientes atendidos no Ambulatório entre junho de 2006 e dezembro de 2018, com identificação dos pacientes com anormalidades cromossômicas diagnosticadas pelo cariótipo convencional com bandeamento G.Resultados: Anormalidades cromossômicas foram identificadas em 77 pacientes (9,7%). Cromossomopatias numéricas de autossomos ou cromossomos sexuais representaram 75,3% de todas as alterações (58/77). Cromossomopatias estruturais desequilibradas foram identificadas em seis pacientes (6/77; 7,8%) e cromossomopatias estruturais equilibradas em outros seis pacientes (6/77; 7,8%). Heteromorfismos cromossômicos foram encontrados em sete pacientes (7/77; 9,1%).Conclusões: Nossos resultados apontam para frequência de cerca de 10% de pacientes com anormalidades cromossômicas identificadas pelo cariótipo convencional, no contexto de um ambulatório de genética médica geral. Os achados ressaltam a importância da investigação citogenética adequada para diagnóstico e aconselhamento genético familiar nas situações de defeitos congênitos, deficiência intelectual, baixa estatura patológica em meninas, amenorreia primária, infertilidade, abortamento de repetição e suspeita clínica de síndromes cromossômicas.
Tuberous sclerosis complex (TSC) is an inherited disorder that typically presents with seizures, developmental delay, cutaneous lesions, and facial angiomas. Clinical diagnosis of TSC based on symptoms is sometimes challenging due to its clinical similarities with neurofibromatosis type 1 (NF1), another type of neurogenetic tumor syndrome. Differential diagnosis should be carefully performed on the basis of clinical presentations, imaging, laboratory, and genetic testing. Here, we presented a case of a patient with an aggressively enlarged right upper limb in the NF1 clinic, who was initially suspected of a giant plexiform neurofibroma. However, differential diagnosis revealed TSC as the final diagnosis. The treatments for NF1 and TSC vary significantly, and misdiagnoses can lead to serious threat to the patients’ health. We also systematically reviewed all previous cases regarding differential diagnoses between NF1 and TSC. This case report can help clinicians make more accurate diagnoses and benefit the potential patient community.
Turner syndrome is a sex chromosome abnormality in which a female has a single X chromosome or structurally deficient second sex chromosome. The phenotypic spectrum is broad, and atypical features prompt discussion of whether the known features of Turner syndrome should be further expanded. With the advent of clinical whole exome sequencing, there has been increased realization that some patients with genetic disorders carry a second genetic disorder, leading us to hypothesize that a “dual diagnosis” may be more common than suspected for Turner syndrome. We report five new patients with Turner syndrome and a co‐occurring genetic disorder including one patient with Li‐Fraumeni syndrome, Li‐Fraumeni and Noonan syndrome, mosaic trisomy 8, pathogenic variant in RERE, and blepharophimosis‐ptosis‐epicanthanus inversus syndrome. We also undertook an extensive literature review of 147 reports of patients with Turner syndrome and a second genetic condition. A total of 47 patients (31%) had trisomy 21, followed by 36 patients (24%) had one of 11 X‐linked disorders. Notably, 80% of the 147 reported patients with a dual diagnosis had mosaicism for Turner syndrome, approximately twice the frequency in the general Turner syndrome population. This article demonstrates the potential for co‐occurring syndromes in patients with Turner syndrome, prompting us to recommend a search for an additional genetic disorder in Turner patients with unusual features. Knowledge of the second condition may lead to modification of treatment and/or surveillance. We anticipate that increased awareness and improved diagnostic technologies will lead to the identification of more cases of Turner syndrome with a co‐occurring genetic syndrome.
