scholarly journals Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome

2018 ◽  
Vol 31 (12) ◽  
pp. 1381-1386 ◽  
Author(s):  
Judith S. Renes ◽  
Jeroen Knijnenburg ◽  
Sharmila Chitoe-Ramawadhdoebe ◽  
Johan J.P. Gille ◽  
Christiaan de Bruin ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Snp Array ◽  
Bone Age ◽  
Tall Stature ◽  
Single Nucleotide ◽  
Case Presentation ◽  
Gastrointestinal Polyposis ◽  
Common Causes ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

Abstract Background Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs). Case presentation A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Extensive endocrine evaluation, mutation analysis of genes associated with connective tissue disorders and a single nucleotide polymorphism (SNP) array showed no abnormalities. At 8 years of age, gynecomastia developed as well as pigmentations on the lips, both of which are associated with PJS. Mutation analysis showed a heterozygous deletion of the whole STK11 gene confirming PJS. Testicular ultrasound confirmed the presence of LCSTs. Interestingly, the previously performed SNP array did not report deletion of the STK11 gene. Conclusions We advise excluding LCSTs in children with tall stature and advanced bone age where more common causes have been eliminated. Although STK11 deletions are documented in control databases, reporting the deletion of this gene even in the absence of a phenotype is advised for patient management.

scholarly journals Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi
Keyword(s):  
Urinary Bladder ◽  
Filling Defect ◽  
Hamartomatous Polyps ◽  
Case Presentation ◽  
Rare Case Report ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome ◽  
Comprehensive Compilation

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

GASTROINTESTINAL POLYPOSIS WITH MUCOCUTANEOUS PIGMENTATION IN CHILDREN (PEUTZ-JEGHERS SYNDROME)

PEDIATRICS ◽  
1961 ◽  
Vol 28 (4) ◽  
pp. 655-661
Author(s):  
James E. Wenzl ◽  
Lloyd G. Bartholomew ◽  
George A. Hallenbeck ◽  
Gunnar B. Stickler
Keyword(s):  
Small Intestine ◽  
Abdominal Pain ◽  
Surgical Treatment ◽  
Gastrointestinal Bleeding ◽  
Recurrent Abdominal Pain ◽  
Malignant Change ◽  
Review Of The Literature ◽  
Gastrointestinal Polyposis ◽  
Mucocutaneous Pigmentation ◽  
Peutz Jeghers Syndrome

A case is reported in which a child had gastrointestinal polyposis associated with mucocutaneous pigmentations (the Peutz-Jeghers syndrome). He experienced severe recurrent abdominal pain caused by intermittent intussusception. Removal of the grossly palpable polyps from the small intestine and stomach controlled his symptoms. On the basis of a review of the literature it has become apparent that this disease may first become manifest during childhood. The symptoms are primarily those of recurrent abdominal pain and gastrointestinal bleeding in the presence of mucocutaneous pigmentation. The prognosis associated with this disease is excellent, and the risk of malignant change, if it really exists, is minimal. For this reason, it is urged that surgical treatment be conservative rather than radical, to avoid unnecessary loss of intestine.

scholarly journals A novel phenotype of 13q12.3 microdeletion characterized by epilepsy in an Asian child: a case report

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Mina Wang ◽  
Bin Li ◽  
Zehuan Liao ◽  
Yu Jia ◽  
Yuanbo Fu
Keyword(s):  
De Novo ◽  
Snp Array ◽  
Epileptic Seizures ◽  
Slow Waves ◽  
Recessive Mutation ◽  
Array Analysis ◽  
Single Nucleotide ◽  
Case Presentation ◽  
Snp Array Analysis ◽  
Cytogenetic Band

Abstract Background The microdeletion of chromosome 13 has been rarely reported. Here, we report a 14-year old Asian female with a de novo microdeletion on 13q12.3. Case presentation The child suffered mainly from two types of epileptic seizures: partial onset seizures and myoclonic seizures, accompanied with intellectual disability, developmental delay and minor dysmorphic features. The electroencephalogram disclosed slow waves in bilateral temporal, together with generalized spike-and-slow waves, multiple-spike-and-slow waves and slow waves in bilateral occipitotemporal regions. The exome sequencing showed no pathogenic genetic variation in the patient’s DNA sample. While the single nucleotide polymorphism (SNP) array analysis revealed a de novo microdeletion spanning 2.324 Mb, within the cytogenetic band 13q12.3. Conclusions The epilepsy may be associated with the mutation of KATNAL1 gene or the deletion unmasking a recessive mutation on the other allele, and our findings could provide a phenotypic expansion.

Giant Solitary Gastric Peutz-Jeghers Polyp Mimicking a Malignant Gastric Tumor: the Largest Described in Literature

2014 ◽  
Vol 23 (3) ◽  
pp. 321-324 ◽  
Author(s):  
Sorinel Lunca ◽  
Vlad Porumb ◽  
Natalia Velenciuc ◽  
Dan Ferariu ◽  
Gabriel Dimofte
Keyword(s):  
Upper Gastrointestinal Bleeding ◽  
Rare Event ◽  
Gastric Tumor ◽  
Node Metastasis ◽  
Mucocutaneous Pigmentation ◽  
History Of ◽  
Peutz Jeghers Syndrome ◽  
Upper Gastrointestinal ◽  
Gastric Malignancy ◽  
Polypoid Tumor

A solitary Peutz-Jeghers polyp is defined as a unique polyp occurring without associated mucocutaneous pigmentation or a family history of Peutz-Jeghers syndrome. Gastric solitary localization is a rare event, with only eight reported cases to date. We report herein the case of a 43-year old woman who presented with upper gastrointestinal bleeding, severe anemia, weight loss and asthenia. Endoscopy revealed a giant polypoid tumor with signs of neoplastic invasion of the cardia, with pathological aspect suggesting a Peutz-Jeghers hamartomatous polyp. Computed tomography suggested a malignant gastric tumor and a total gastrectomy was performed. The pathological specimen showed a giant 150/70/50 mm polypoid tumor and immunochemistry established the final diagnostic of a Peutz-Jegers type polyp. This is the largest solitary Peutz-Jeghers gastric polyp reported until now, and the second one mimicking a gastric malignancy with lymph node metastasis.

Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy

2020 ◽  
Vol 33 (5) ◽  
pp. 671-674
Author(s):  
Tashunka Taylor-Miller ◽  
Jayne Houghton ◽  
Paul Munyard ◽  
Yadlapalli Kumar ◽  
Clinda Puvirajasinghe ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Newborn Period ◽  
Case Presentation ◽  
Male Baby ◽  
Common Causes ◽  
Compound Heterozygous Mutations

AbstractBackgroundCongenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI.Case presentationA term macrosomic male baby, birth weight 4.81 kg, born to non-consanguineous parents, presented on day 1 of life with severe and persistent hypoglycemia. The biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and progressively increased to 15 mg/kg/day to maintain normoglycemia. Sequence analysis identified compound heterozygous mutations in ABCC8 c.4076C>T and c.4119+1G>A inherited from the unaffected father and mother, respectively. The mutations are reported pathogenic. The patient is currently 7 months old with a sustained response to diazoxide.ConclusionsBiallelic ABCC8 mutations are known to result in severe, diffuse, diazoxide-unresponsive hypoglycemia. We report a rare patient with CHI due to compound heterozygous mutations in ABCC8 responsive to diazoxide.

scholarly journals Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Lili Zhou ◽  
Zhaoke Zheng ◽  
Yunzhi Xu ◽  
Xiaoxiao Lv ◽  
Chenyang Xu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Diagnosis ◽  
Molecular Analysis ◽  
Correct Diagnosis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Chromosome 1 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rescue Mechanism

Abstract Background The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array. Results Out of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism. Conclusion The prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

scholarly journals Epiphysiodesis for the treatment of tall stature and leg length discrepancy

2021 ◽  
Author(s):  
Madeleine Willegger ◽  
Markus Schreiner ◽  
Alexander Kolb ◽  
Reinhard Windhager ◽  
Catharina Chiari
Keyword(s):  
Surgical Planning ◽  
Multidisciplinary Approach ◽  
Treatment Options ◽  
Bone Age ◽  
Leg Length Discrepancy ◽  
Tall Stature ◽  
Complication Rates ◽  
Leg Length ◽  
Growth Prediction ◽  
Length Discrepancy

SummaryPainful orthopedic conditions associated with extreme tall stature and leg length discrepancy (LLD) include back pain and adopting bad posture. After failure of conservative treatment options, blocking of the growth plates (epiphysiodesis) around the knee emerged as gold standard in patients with tall stature and LLD in the growing skeleton. Surgical planning includes growth prediction and evaluation of bone age. Since growth prediction is associated with a certain potential error, adequate planning and timing of epiphysiodesis are the key for success of the treatment. LLD corrections up to 5 cm can be achieved, and predicted extreme tall stature can be limited. Percutaneous epiphysiodesis techniques are minimally invasive, safe and efficient methods with low complication rates. In general, a multidisciplinary approach should be pursued when treating children and adolescents with tall stature.

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