scholarly journals LINC-16. MEDULLOBLASTOMA IN A BOY WITH RUBINSTEIN-TAYBI SYNDROME: A CASE REPORT

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii381-iii381
Author(s):  
Regina M Navarro-Martin del Campo ◽  
Juan Luis Soto-Mancilla ◽  
Luis A Arredondo-Navarro ◽  
Ana L Orozco-Alvarado ◽  
Fernando A Sanchez-Zubieta
Keyword(s):  
Malignant Tumors ◽  
Clinical Genetics ◽  
Increased Intracranial Pressure ◽  
Nasal Bridge ◽  
Craniospinal Radiation ◽  
Pediatric Medulloblastoma ◽  
End Of Treatment ◽  
Disseminated Disease ◽  
4Th Ventricle ◽  
Broad Nasal Bridge

Abstract BACKGROUND Rubinstein–Taybi syndrome (RTS) is characterized by multiple congenital anomalies and associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have suggested an increased incidence of benign and possibly also malignant tumors, but the correlation remains unclear. Here we present a case of a patient with RTS and medulloblastoma. CLINICAL CASE: A 5-year-old male presented with increased intracranial pressure. An MRI revealed a 4.2 x 4.7 cm mass in the midline of cerebellum arising from the floor of 4th ventricle. The patient underwent a complete resection and pathology revealed medulloblastoma, classic histology. Staging established no disseminated disease. At diagnosis, a peculiar phenotype consisting in mild mental retardation, microcephaly, down-slanting palpebral fissures, broad nasal bridge, highly arched palate, mild micrognathia, screwdriver incisors and wide thumbs and toes was noted. Clinical genetics evaluation was consistent with RTS. Karyotype was performed and normal. Further genetics testing was not done. Treatment consisted in 8 cycles of chemotherapy and craniospinal radiation (2300 cGy to spine, 5500 cGy Total). At the end of treatment, there was no evidence of disease. He was under surveillance for 33 months free of disease, but relapsed with a supratentorial meningeal disease that ultimately resulted in death. CONCLUSION This report highlights the fact that pediatric medulloblastoma can be associated to RTS, in this case associated to classical histology and recurrent disease.

Hemangioma Calcificans in the Fourth Ventricle

Neurosurgery ◽  
1984 ◽  
Vol 14 (6) ◽  
pp. 737-739 ◽  
Author(s):  
Kobayashi Hidenori ◽  
Kawano Hirokazu ◽  
Ito Haruhide ◽  
Hayashi Minoru ◽  
Yamamoto Shinjiro
Keyword(s):  
Computed Tomography ◽  
Intracranial Pressure ◽  
Posterior Fossa ◽  
Clinical Picture ◽  
Fourth Ventricle ◽  
Obstructive Hydrocephalus ◽  
Increased Intracranial Pressure ◽  
X Ray ◽  
4Th Ventricle

Abstract A case of hemangioma calcificans in the 4th ventricle is reported. Skull x-ray films demonstrated a dense calcification in the posterior fossa. Computed tomography disclosed a hyperdense mass in the 4th ventricle. The clinical picture was of increased intracranial pressure due to obstructive hydrocephalus. An hemangioma calcificans in the 4th ventricle was removed successfully.

Anaplastic medulloblastoma in a child with Duchenne muscular dystrophy

2012 ◽  
Vol 10 (1) ◽  
pp. 21-24 ◽  
Author(s):  
Machiel van den Akker ◽  
Paul Northcott ◽  
Michael D. Taylor ◽  
William Halliday ◽  
Ute Bartels ◽  
...  
Keyword(s):  
Brain Tumor ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Subtotal Resection ◽  
Walking Ability ◽  
Malignant Cells ◽  
Ethical Considerations ◽  
Increased Intracranial Pressure ◽  
Craniospinal Radiation ◽  
Anaplastic Medulloblastoma

A 9-year-old boy with known Duchenne type muscular dystrophy (DMD) presented with signs of increased intracranial pressure. Radiological investigations revealed a lesion in the midline of the posterior fossa. Subtotal resection was performed. Pathology findings were consistent with the diagnosis of anaplastic medulloblastoma. The postoperative lumbar CSF was positive for malignant cells. Postoperatively, the patient showed severe neurological deterioration and lost his capacity to walk. He was treated with craniospinal radiation followed by nonintensive chemotherapy. At 30 months postsurgery, he was still in complete remission but had not recovered his walking ability. This is the second report of a malignant brain tumor in a boy with DMD. The possible link between the 2 conditions is discussed, as are ethical considerations regarding the management of medulloblastoma in children with DMD.

scholarly journals Subgroup-Specific Diagnostic, Prognostic, and Predictive Markers Influencing Pediatric Medulloblastoma Treatment

Diagnostics ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 61
Author(s):  
Sutapa Ray ◽  
Nagendra K. Chaturvedi ◽  
Kishor K. Bhakat ◽  
Angie Rizzino ◽  
Sidharth Mahapatra
Keyword(s):  
Surgical Resection ◽  
High Throughput Screening ◽  
Central Nervous System Tumor ◽  
Craniospinal Radiation ◽  
Pediatric Medulloblastoma ◽  
Technological Advances ◽  
Epigenetic Events ◽  
System Tumor ◽  
Patient Prognosis ◽  
Primary Subgroups

Medulloblastoma (MB) is the most common malignant central nervous system tumor in pediatric patients. Mainstay of therapy remains surgical resection followed by craniospinal radiation and chemotherapy, although limitations to this therapy are applied in the youngest patients. Clinically, tumors are divided into average and high-risk status on the basis of age, metastasis at diagnosis, and extent of surgical resection. However, technological advances in high-throughput screening have facilitated the analysis of large transcriptomic datasets that have been used to generate the current classification system, dividing patients into four primary subgroups, i.e., WNT (wingless), SHH (sonic hedgehog), and the non-SHH/WNT subgroups 3 and 4. Each subgroup can further be subdivided on the basis of a combination of cytogenetic and epigenetic events, some in distinct signaling pathways, that activate specific phenotypes impacting patient prognosis. Here, we delve deeper into the genetic basis for each subgroup by reviewing the extent of cytogenetic events in key genes that trigger neoplastic transformation or that exhibit oncogenic properties. Each of these discussions is further centered on how these genetic aberrations can be exploited to generate novel targeted therapeutics for each subgroup along with a discussion on challenges that are currently faced in generating said therapies. Our future hope is that through better understanding of subgroup-specific cytogenetic events, the field may improve diagnosis, prognosis, and treatment to improve overall quality of life for these patients.

Recurrent spontaneous intracranial hemorrhage in a patient with Jacobsen syndrome

2020 ◽  
pp. 10.1212/CPJ.0000000000000963
Author(s):  
Neil Suryadevara ◽  
Rashid Ahmed ◽  
Ahmed El Dokla
Keyword(s):  
Heart Defects ◽  
Terminal Deletion ◽  
Upper Lip ◽  
Platelet Dysfunction ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Spontaneous Intracranial Hemorrhage ◽  
Neonatal Thrombocytopenia ◽  
Broad Nasal Bridge ◽  
I Gene

Jacobsen syndrome (JS) is an 11q terminal deletion disorder. Affected individuals have developmental delay, cognitive impairment, heart defects, hypertelorism, broad nasal bridge, and a thin upper lip. Most patients with JS have Paris-Trousseau syndrome (PTS), which is characterized by neonatal thrombocytopenia and persistent platelet dysfunction due to 11q terminal deletion including FLI-I gene causing platelet alpha-granule abnormalities.1

scholarly journals Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Bone Age ◽  
Chromosome 7 ◽  
Facial Features ◽  
Mild Mental Retardation ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Case Presentations ◽  
Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

scholarly journals P.074 Myopathic aspects of Mowat-Wilson Syndrome

2017 ◽  
Vol 44 (S2) ◽  
pp. S32-S32
Author(s):  
L Subramanian ◽  
Y Wei ◽  
C Nguyen ◽  
R Hicks ◽  
P Chitra ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Single Gene ◽  
Gene Sequencing ◽  
Motor Units ◽  
Index Patient ◽  
Nasal Bridge ◽  
Genetic Syndrome ◽  
Motor Delay ◽  
Broad Nasal Bridge

Background: Mowat-Wilson Syndrome (MWS) is a genetic syndrome (ZEB2, OMIM: 235730) that occurs in 1 in 50000 births. It is characterized by microcephaly, intellectual disability, dysmorphisms (prominent chin, cupped ears, broad nasal bridge) and Hirschsprung’s disease. Although motor delay and hypotonia are common components, a myopathy has not been described in MWS literature. A childhood case with myopathic features prompted further study of this rare disease. Methods: Patients were recruited from the Mowat-Wilson Foundation via email or social media to complete a survey. Results: Thirteen surveys were returned to date. Although 54% of the patients reported motor delay, none of the patients had myopathy investigations. The index patient, presented at 1 year old, with hypotonia and developmental delay. Pregnancy and family history were unremarkable. Investigations revealed high CK levels (range 300 to 500 U/L), EMG confirmed myopathic motor units, and muscle biopsy showed type 1 fibre predominance. Single gene sequencing revealed pathogenic mutations of ZEB2, confirming a diagnosis of MWS. Conclusions: The description of myopathic features expands the spectrum of this rare syndrome and adds to the differential diagnosis of hyperCKemia in early childhood.

scholarly journals A Case of Multiple Spontaneous Keloid Scars

2015 ◽  
Vol 7 (2) ◽  
pp. 156-160 ◽  
Author(s):  
Abdulhadi Jfri ◽  
Nawal Rajeh ◽  
Eman Karkashan
Keyword(s):  
Cleft Lip ◽  
The Body ◽  
Single Female ◽  
Nasal Bridge ◽  
Cutaneous Injury ◽  
High Arched Palate ◽  
Keloid Scars ◽  
Previous Trauma ◽  
Broad Nasal Bridge ◽  
Different Parts

Keloid scars result from an abnormal healing response to cutaneous injury or inflammation that extends beyond the borders of the original wound. Spontaneous keloid scars forming in the absence of any previous trauma or surgical procedure are rare. Certain syndromes have been associated with this phenomenon, and few reports have discussed the evidence of single spontaneous keloid scar, which raises the question whether they are really spontaneous. Here, we present a 27-year-old mentally retarded single female with orbital hypertelorism, broad nasal bridge, repaired cleft lip and high-arched palate who presented with progressive multiple spontaneous keloid scars in different parts of her body which were confirmed histologically by the presence of typical keloidal collagen. This report supports the fact that keloid scars can appear spontaneously and are possibly linked to a genetic factor. Furthermore, it describes a new presentation of spontaneous keloid scars in the form of multiple large lesions in different sites of the body.

Metastatic Renal Cell Carcinoma Presenting as Foot Metastasis

2011 ◽  
Vol 101 (3) ◽  
pp. 265-268 ◽  
Author(s):  
Elie Choufani ◽  
Jerome Diligent ◽  
Laurent Galois ◽  
Didier Mainard
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Metastatic Renal Cell Carcinoma ◽  
Metastatic Disease ◽  
Renal Cell ◽  
Malignant Tumors ◽  
Rare Condition ◽  
Delay In Diagnosis ◽  
Disseminated Disease ◽  
Late Manifestation

Malignant tumors frequently metastasize to bone centrally in the skeleton. Metastatic disease distal to the knee is unusual. Metastasis to the foot (acrometastasis) is rare (0.01%) and is usually a late manifestation of disseminated disease. The purpose of this article is to present a rare case of metastatic renal cell carcinoma with foot metastasis as the primary manifestation along with another rare localization of metastatic disease distal to the knee, in the contralateral tibial diaphysis. To highlight the delay in diagnosis of such a rare condition to consider it in the diagnosis of a painful foot, we also present a review of the literature. (J Am Podiatr Med Assoc 101(3): 265–268, 2011)

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