scholarly journals Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Sérgio Júlio Fernandes ◽  
Maria Isabel Valdomir Nadaf ◽  
Nauro Hudson Monteiro ◽  
Izabel Nazira Nadaf ◽  
Cleiton Ribeiro Lélis ◽  
...  

Background. PAPA syndrome (MIM #604416) is a rare monogenic autoinflammatory disease genetically transmitted in an autosomal dominant trait that results from missense mutations in the proline-serine-threonine phosphatase-interactive protein 1 (PSTPIP1) gene located on chromosome 15 and is characterized by sterile pyogenic arthritis, pyoderma gangrenosum, and cystic acne. We describe the clinical and molecular findings of two related Brazilian patients with PAPA syndrome. Case Presentation. A 7-year-and-3-month-old boy with nonconsanguineous parents had had recurrent pyoarthritis since the age of 5 years and 8 months. During his last and long hospitalization, the lack of improvement with antibiotics, evidence of increased inflammatory activity, repeated arthrotomies, draining purulent fluid that had negative cultures, and the history of trauma, all on in a clinical background of pyoarthritis, led to the suspicion of an autoinflammatory syndrome. This was confirmed by the good clinical response to corticotherapy. Genetic sequencing confirmed the diagnosis of PAPA syndrome, with the pathogenic mutation c.688 G > A (p. Ala230Thr) in the PSTPIP1 gene present in the patient and in the mother. Conclusions. This case illustrates that in children with recurrent/recalcitrant sterile recurrent pyogenic arthritis/osteomyelitis, the possibility of an underlying immunological condition should be considered. In both, recurrent infections or recurrent inflammation, many genes involved in the inborn errors of immunity can be associated, and a correct and precocious diagnosis is necessary to avoid mobility and mortality. To the best of our knowledge, this is the first report of PAPA syndrome in Brazil.

2011 ◽  
Vol 258 (9) ◽  
pp. 1632-1636 ◽  
Author(s):  
Raffaella Valenti ◽  
Silvia Bianchi ◽  
Francesca Pescini ◽  
Camilla D’Eramo ◽  
Domenico Inzitari ◽  
...  

Rheumatology ◽  
2005 ◽  
Vol 44 (3) ◽  
pp. 406-408 ◽  
Author(s):  
M. P. Dierselhuis

Author(s):  
Muhammad Wasim ◽  
Haq N. Khan ◽  
Hina Ayesha ◽  
Mazhar Iqbal ◽  
Abdul Tawab ◽  
...  

Abstract Background Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by CBS) deficiency. Symptoms of untreated classical HCU patients include intellectual disability (ID), ectopia lentis and long limbs, along with elevated plasma methionine, and homocysteine. Methods A total of 429 ID patients (age range: 1.6–23 years) were sampled from Northern areas of Punjab, Pakistan. Biochemical and genetic analyses were performed to find classical HCU disease in ID patients. Results Biochemically, nine patients from seven unrelated families were identified with high levels of plasma methionine and homocysteine. Targeted exonic analysis of CBS confirmed seven causative homozygous mutations; of which three were novel missense mutations (c.451G>T; p.Gly151Trp, c.975G>C; p.Lys325Asn and c.1039 + 1G>T splicing), and four were recurrent variants (c.451 + 1G>A; IVS4 + 1 splicing, c.770C>T; p.Thr257Met, c.808_810del GAG; p.Glu270del and c.752T>C; p.Leu251Pro). Treatment of patients was initiated without further delay with pyridoxine, folic acid, cobalamin, and betaine as well as dietary protein restriction. The immediate impact was noticed in behavioral improvement, decreased irritability, improved black hair color, and socialization. Overall, health outcomes in this disorder depend on the age and symptomatology at the time of treatment initiation. Conclusions With personalized treatment and care, such patients can reach their full potential of living as healthy a life as possible. This screening study is one of the pioneering initiatives in Pakistan which would help to minimize the burden of such treatable inborn errors of metabolism in the intellectually disabled patients.


2015 ◽  
Vol 8 (8) ◽  
pp. e29-e29 ◽  
Author(s):  
Kasra Khatibi ◽  
Jeremy J Heit ◽  
Nicholas A Telischak ◽  
Jorina M Elbers ◽  
Huy M Do

A young patient with PAPA (pyogenic arthritis, pyoderma gangrenosum, and acne) syndrome developed an unusual cerebral arterial vasculopathy/vasculitis (CAV) that resulted in subarachnoid hemorrhage from a ruptured dissecting posterior cerebral artery (PCA) aneurysm. This aneurysm was successfully treated by endovascular coil sacrifice of the affected segment of the PCA. The patient made an excellent recovery with no significant residual neurologic deficit.


2021 ◽  
pp. 20200152
Author(s):  
Jorge Vaz Lourenço ◽  
Joana Coelho ◽  
Andrea Salgueiro

Unexpected bone lesions of the skull present a common dilemma, where radiological appearance and patient’s clinical background are crucial to avoid misdiagnosis. Enostosis are benign sclerotic bone lesions; its aetiology is still unknown and its management is usually conservative, with good prognosis. Most of these lesions are asymptomatic and neurological involvement is rare. We present the first report of enostosis-related epilepsy.


Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 4851-4851
Author(s):  
Arjan Buijs ◽  
Saskia van der Crabben ◽  
Bert van der Zwaag ◽  
Ellen van Binsbergen ◽  
Martin Poot ◽  
...  

Abstract Abstract 4851 Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) is an autosomal dominant disorder characterized by platelet abnormalities and a predisposition to acute myeloid leukemia (AML). FPD/AML is caused by inherited mutations in 21q22 RUNX1. Recent publications by us and others reported on RUNX1 copy number changes as a pathogenomic mechanism next to point mutations in diagnosing FPD/AML. Given the clinical heterogeneity of FPD/AML, the syndrome could be overlooked, and has resulted in the past in stem cell transplantation (SCT) of patients from affected siblings before detection of the inherited RUNX1 mutation. Here we report on the identification of two novel missense mutations (G143R and Q235X), and a constitutional RUNX1 gene rearrangement as a result of a t(16;21)(p13;q22) as a novel pathogenomic mechanism in FPD/AML. The 16p13 breakpoint was confined to the ATF7IP2 (MCAF1) locus, a transcription factor associated with Sp1, which is involved in myeloid differentiation, and in proliferation in human cancer by epigenetic transcriptional control of Sp1-dependent maintenance of telomerase activity. This is the first report on genomic involvement of the ATF7IP2 locus in cancer. We will discuss ongoing studies to molecularly identify the breakpoints. Our data indicate that in diagnosing FPD/AML FISH has to be performed for structural abnormalities along with sequencing and copy number analysis of RUNX1. Furthermore, this is the first report on a constitutional chromosome translocation with an oncogene rearrangement as a pathogenomic mechanism in a hematological malignancy. Disclosures: No relevant conflicts of interest to declare.


2018 ◽  
Vol 49 (1) ◽  
pp. 23-36 ◽  
Author(s):  
Claudia Martinez-Rios ◽  
Mehul P. Jariwala ◽  
Kerri Highmore ◽  
Karen Watanabe Duffy ◽  
Lynn Spiegel ◽  
...  

2020 ◽  
Vol 11 ◽  
Author(s):  
Anna Sowińska-Seidler ◽  
Paweł Sztromwasser ◽  
Katarzyna Zawadzka ◽  
Dawid Sielski ◽  
Ewelina Bukowska-Olech ◽  
...  

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