scholarly journals A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Boonchai Boonyawat ◽  
Mongkon Charoenpitakchai ◽  
Piradee Suwanpakdee
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Fourth Ventricle ◽  
Somatic Mutations ◽  
Autosomal Dominant ◽  
Hematologic Malignancies ◽  
Autosomal Dominant Disorder ◽  
Ptpn11 Mutation ◽  
First Case ◽  
Tumor Types

Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic malignancies and brain solid tumors. However, the report of brain tumors in Noonan syndrome remains rather rare. Here, we report the first case of an 11-year-old Thai boy with Noonan syndrome who presented with symptoms related to hydrocephalus secondary to subependymoma in the fourth ventricle, and PTPN11 mutation was identified in this patient.

scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

scholarly journals Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

2018 ◽  
Vol 3 (09) ◽  
Author(s):  
Tivya Kulasegaran ◽  
Pranav Kumar
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Parathyroid Hormone ◽  
Autosomal Dominant ◽  
Genetic Test ◽  
Calcium Sensor ◽  
Clearance Ratio ◽  
Autosomal Dominant Disorder ◽  
Casr Gene ◽  
Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

PTPN11 Mutational Spectrum in Juvenile Myelomonocytic Leukemia and Noonan Syndrome.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3417-3417 ◽  
Author(s):  
Christian P. Kratz ◽  
Charlotte M. Niemeyer ◽  
Bruce D. Gelb ◽  
Marco Tartaglia ◽  
Mignon L. Loh
Keyword(s):  
Cell Fate ◽  
Noonan Syndrome ◽  
Somatic Mutations ◽  
Heart Defects ◽  
Lymphoblastic Leukemia ◽  
Juvenile Myelomonocytic Leukemia ◽  
Acute Monocytic Leukemia ◽  
Missense Mutations ◽  
Ptpn11 Mutation ◽  
Myelomonocytic Leukemia

Abstract Somatic, heterozygous missense mutations in the PTPN11 proto-oncogene encoding SHP-2 are identified in 35% of patients with juvenile myelomonocytic leukemia (JMML). Other non-syndromic hematologic malignancies in which somatic PTPN11 mutations have been detected are pediatric myelodysplastic syndrome, acute monocytic leukemia (FAB-M5 AML) and common or B-cell precursor acute lymphoblastic leukemia. Germline PTPN11 mutations are found in 50% of patients with Noonan syndrome (NS), an autosomal dominant disorder characterized by facial anomalies, short stature and congenital heart defects. Infants with NS are predisposed to developing JMML (NS/JMML); however, the course of NS/JMML tends to be milder and self-resolving. JMML that is not associated with NS have a poor prognosis and are currently being treated with intensive regimens such stem cell transplantation. Differentiating JMML from NS/JMML is of critical clinical relevance and also provides interesting questions about the pathogenesis of these diseases. To that end, we have compared the spectrum of mutations in patients with isolated JMML, NS/JMML and NS alone. The assembly of all known published and unpublished germline and somatic exon 3 and 13 PTPN11 mutations detected in ours and other laboratories (78 pts with PTPN11 mutation positive isolated JMML; 18 pts with PTPN11 mutation positive NS/JMML) reveal that the identity of the affected residues or the type of substitution differ between NS and JMML, even though the resulting molecular defects appear to be functionally similar. In NS defects in exons 4, 7 and 8 account for approximately one-half of cases. On the contrary, mutations affecting these exons are rarely identified in JMML. A few germline NS-causative mutations affect the same residues of SHP-2 that are also altered by somatic mutations in non-syndromic JMML. In almost all of the cases, the germline and somatic mutations affecting identical residues differ with respect to the amino acid substitution. There are 2 major hot spots: 7 out of 18 patients (39%) with NS/JMML carry the T73I substitution. In isolated JMML the E76K mutation is detected most often (18 out of 78 patients (23%)). We describe 2 novel JMML mutations (E76M, G503V) and 2 novel NS/JMML mutations (R598W, S502A). Six mutations associated with isolated NS are also observed in NS/JMML. These findings imply the presence of a germline mutation needs to be excluded in all mutation positive neonates with presumed isolated JMML. In addition, our findings raise a number of research questions: First, are somatic PTPN11 mutations alone sufficient to initate leukemia and what are the molecular factors influencing the consequences of a PTPN11 mutation in hematopoietic cells? Second, do identical mutations have different consequences on cell fate of hematopoetic cells depending on whether they occur as germline or somatic events? Do some patients with isolated NS and PTPN11 mutation develop transient myeloproliferation of hematopoetic cells which may be subtle and unrecognised?

scholarly journals Piebaldism in a 3-month-old infant: Case report

2014 ◽  
Vol 67 (3-4) ◽  
pp. 109-110
Author(s):  
Olgica Milankov ◽  
Radojica Savic ◽  
Anica Radulovic
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
Male Infant ◽  
Congenital Absence ◽  
Skin Involvement ◽  
Left Forearm ◽  
Autosomal Dominant Disorder ◽  
And Migration ◽  
Infant Case

Introduction. Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. Case report. A 3 ? month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy?s leucoderma as piebaldism. Conclusion. Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.

scholarly journals A Case of Hypophosphatemiawith Increased Urinary Excretion of Phosphorus Associated with Ibrutinib

2016 ◽  
Vol 9 (1) ◽  
pp. 223-227 ◽  
Author(s):  
Ewa M. Wysokinska ◽  
Amanda M. Thompson ◽  
Carlos R. Franco Palacios
Keyword(s):  
Renal Function ◽  
Uric Acid ◽  
Case Report ◽  
Hematologic Malignancies ◽  
Lymphocytic Leukemia ◽  
Serum Phosphorus ◽  
Phosphorus Level ◽  
First Case ◽  
Initiation Of Therapy

Ibrutinib, an irreversible oral inhibitor of Bruton's tyrosine kinase, has been used in the treatment of patients with multiple hematologic malignancies. A 59-year-old male with chronic lymphocytic leukemia was treated with 420 mg/day of ibrutinib. No evidence of bruising or diarrhea was noted. The treatment was complicated by a transient increase in creatinine (from a baseline of 1.2 to 1.5 mg/dl) and potassium (reaching a peak of 6.5 mEq/l). Uric acid and calcium levels were normal. The patient developed hypophosphatemia (prior to initiation of therapy the serum phosphorus was 2.9 mg/dl). No metabolic acidosis was noted. Urinalysis showed no glucosuria or proteinuria. Urinary fraction of excretion of phosphate was found to be 345% (normal <5%). Because of these changes, ibrutinib was held, and the patient was given kayexalate. Serum potassium normalized. Serum phosphorus was checked a couple of weeks later and also normalized. A lower dose of ibrutinib (140 mg/day) was restarted. Upon follow-up, the phosphorus level has been between 2.9 and 3.2 mg/dl. No further evidence of hyperkalemia has been noted. Renal function has remained at baseline. To the best of our knowledge, this is the first case report describing the mechanism of hypophosphatemia in a patient treated with ibrutinib.

scholarly journals Case Report: A Rare Case of Fourth Ventricle to Spinal Subarachnoid Space Shunt Migration: Surgical Pearl and Literature Review

2021 ◽  
Vol 8 ◽  
Author(s):  
Nicolas Serratrice ◽  
Joe Faddoul ◽  
Bilal Tarabay ◽  
Sarkis Taifour ◽  
Georges Naïm Abi Lahoud
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Subarachnoid Space ◽  
Fourth Ventricle ◽  
Review Article ◽  
Catheter Migration ◽  
First Case ◽  
Spinal Subarachnoid Space ◽  
Chiari Syndrome ◽  
Shunt Migration

Background: In the event of syringomyelia communicating with the fourth ventricle, a fourth ventricle to cervical subarachnoid space shunting could be proposed.Case Report: In this review article, we describe the case of a 40-year-old woman who had a previously implanted fourth ventricle to spinal subarachnoid space shunt for the treatment of syringomyelia in the context of Chiari syndrome. The catheter migrated intradurally to the lumbosacral space, but in the absence of neurological repercussions, we decided to leave it in place.Conclusions: To the best of our knowledge, this is the first case described in the literature review of a catheter migration in the subarachnoid space from occipitocervical to lumbosacral level.

scholarly journals Clinical orofacial and myofunctional manifestations in an adolescent with Noonan Syndrome: a case report

Revista CEFAC ◽  
2020 ◽  
Vol 22 (4) ◽  
Author(s):  
Geciane Xavier Torres ◽  
Emerson de Santana Santos ◽  
Carla Patrícia Hernandez Alves Ribeiro César ◽  
Roxane de Alencar Irineu ◽  
Isabel Ribeiro Rocha Dias ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Disease ◽  
Noonan Syndrome ◽  
Speech Therapy ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
The Face ◽  
Facial Type ◽  
Class Iv

ABSTRACT Noonan syndrome is an autosomal dominant genetic disease with different manifestations, including Speech, Language and Hearing Sciences ones. The authors describe the orofacial and myofunctional manifestations of an adolescent diagnosed with Noonan syndrome, by consulting the Speech, Language and Hearing Sciences record of a 17-year-old male patient, who underwent screening and speech therapy evaluation with a confirmed genetic diagnosis of Noonan syndrome. The results were qualitatively analyzed. The patient had a long facial type, with a disproportion between the lower and middle thirds of the face, ogival palate, and Mallampati class IV. A deficit in mobility and sensitivity of phonoarticulatory organs was also identified, absence of pathological oral and gag reflexes, decreased lip tone and tongue tension, increased speed chewing and inefficient grinding, functional swallowing for assessed consistencies, mild verbal and nonverbal apraxia, and moderate dysarthria. The results confirmed the presence of alterations in the speech-language organs, proving the relevance of the Speech, Language and Hearing Sciences evaluation in Noonan Syndrome, to allow adequate follow-up and treatment.

scholarly journals Gorlin-Goltz Syndrome - An Unusual Case Report

2016 ◽  
Vol 5 (1) ◽  
pp. 1071
Author(s):  
B. Thayumanavan ◽  
T. Jeyanthikumari ◽  
P. Meghalapriya
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Autosomal Dominant ◽  
Keratocystic Odontogenic Tumor ◽  
Review Of Literature ◽  
Autosomal Dominant Disorder ◽  
Goltz Syndrome ◽  
Multisystemic Disease ◽  
Consistent Feature ◽  
Unusual Case Report

Gorlin-Goltz syndrome is an uncommon autosomal dominant disorder manifesting as a multisystemic disease. Keratocystic odontogenic tumor (KCOT) is considered as the most consistent feature of this syndrome. Dentists play a key role in making early diagnosis of this syndrome. Here we present a case of Gorlin- Goltz syndrome identified by multiple multilocular radiolucencies in the mandible. A review of literature of different diagnostic criteria for Gorlin-Goltz syndrome is also discussed.

scholarly journals Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Makoto Nakagawa ◽  
Eisuke Kobayashi ◽  
Masayoshi Yamada ◽  
Tomoko Watanabe ◽  
Makoto Hirata ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Analysis ◽  
High Frequency ◽  
Sebaceous Gland ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Small Subset ◽  
Case Presentation ◽  
Germline Variant ◽  
First Case

Abstract Background Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor spectrum, and sarcomas associated with MTS are extremely rare. Case presentation Here we report a myxofibrosarcoma of the abdominal wall in a 73-year-old man with a sebaceoma that occurred synchronically, leading to a diagnosis of MTS. The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. A germline genetic analysis revealed that he harbored the MLH1 PGV. Conclusions This is the first case of MSI-H myxofibrosarcoma with MTS in an MLH1 PGV carrier. Although rare, we should recognize that sarcomas can be part of the spectrum of LS and MTS.

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