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Background. Mammography is a method widely used for the diagnosis of breast disorders in women and may help detect breast cancer in its early stages. Male breast cancer often remains undiagnosed or is poorly controlled until serious complications arise; therefore, the use of screening methods is needed to help with early diagnosis. Methods. From a total of 1,667 registered mammography cases screened, 17 male breast disease cases were included in this study. Mammography and ultrasound data were analyzed by Statistical Package of Social Sciences v.22 (SPSS). Diagnosis was made following biopsy in suspicious cases, and histopathological and immunological findings of all such patients were obtained for final diagnosis. Results. The mean age of the patients was 35 years (range, 14-70 years); 17.6% of the cases were aged 37 yrs, and 2 cases were aged 51 and 52 yrs. Of the 17 cases, 11 had breast lesions, and skin thickening was observed in only 1 case. The different patterns of lesions detected were asymmetry of the parenchyma, mastitis, and hamartoma (n = 1 each), malignant lesions (n = 2), and gynecomastia (n = 6). According to the BI-RADS categorization, 8 cases were benign, one case was probably benign, and 2 cases were likely malignant. In the 2 cases with malignant lesions, pathological diagnosis was made after hematoxylin and eosin and immunocytochemistry examination as invasive ductal carcinoma (IDC) of no special type (NST), grade II and grade III. Conclusions. Most breast lesions in this study population were benign, while IDC was the most common malignancy encountered. Mammography is currently the most accurate and cost-effective method for detecting breast lesions. The findings of our study may help increase awareness of male breast cancer and encourage Saudi men at risk to perform self-breast exam and undergo routine breast screening. [ABSTRACT FROM AUTHOR]

Background: Symplastic hemangioma is a benign superficial abnormal buildup of blood vessels, with morphological features which can mimic a pseudo malignancy. A few cases have been reported in the literature. We report here, a unique case of calvarial symplastic hemangioma, which is the first case in the calvarial region.Case Presentation: A 29-year-old male patient, with a left occipital calvarial mass since childhood, that gradually increased in size with age, was associated with recurrent epileptic fits controlled by Levetiracetam (Keppra), with no history of trauma. He presented to the emergency room with a recent headache, vomiting, frequent epileptic fits and a decrease in the level of consciousness 1 day prior to admission. A CT scan showed three diploic, expansile, variable sized lytic lesions with a sunburst appearance; two that were biparietal, and one that was left occipital, which were all suggestive of calvarial hemangiomas. However, the large intracranial soft tissue content, within the hemorrhage of the occipital lesion was concerning. The patient had refused surgery over the years; however, after the last severe presentation, he finally agreed to treatment. The two adjacent, left parietal and occipital lesions were treated satisfactorily using preoperative embolization, surgical resection, and cranioplasty. Histopathology revealed cavernous hemangiomas, in addition to symplastic hemangioma (pseudo malignancy features) on top at the occipital lesion. The right parietal lesion was not within the surgical field; therefore, it was left untouched for follow-up.Conclusions: Histopathology and radiology examinations confirmed the diagnosis as symplastic hemangioma, on top of a pre-existing cavernous hemangioma. To the best of our knowledge, this is the first case of a calvarial symplastic hemangioma, which we report here. [ABSTRACT FROM AUTHOR]

Dravet syndrome (DS) is an epileptic encephalopathy that presents with protracted seizures in infancy, associated with fever, and frequently categorized as febrile seizure at first presentation. In the second year, myoclonia, atypical absence and complex partial seizures develop. The correct diagnosis of DS and appropriate follow-up are delayed until after appearance of signs of developmental regression in the second year of life. Timely detection and diagnosis of DS followed by management with suitable anticonvulsants and treatment plan may reduce the seizure burden and improve long-term developmental outcome. We present a case of 2 years old female with recurrent attacks of generalized tonic colonic convulsion after 1st febrile convulsion diagnosed as Dravet syndrome. The diagnosis was based on history and gene study (SCN1A). [ABSTRACT FROM AUTHOR]

Choroid plexus papilloma (CPP) is a rare benign tumor of the central nervous system that is usually confined to the cerebral ventricles. According to the World Health Organization, CPP corresponds to a grade I atypical CPP (a-CPP); however, it can become more aggressive and reach grade II, which can rarely undergo malignant transformation into a choroid plexus carcinoma (grade III). To the best of our knowledge, identification of these tumors mutations by next generation DNA sequencing (NGS) has not been yet reported. In the present study, NGS analysis of an a-CPP case was performed. Data were analyzed using Advaita Bioinformatics i-VariantGuide and Ion Reporter 5.6 programs. The results from NGS identified 12 novel missense mutations in the following genes: NOTCH1, ATM, STK36, MAGI1, DST, RECQL4, NUMA1, THBS1, MYH11, MALT1, SMARCA4 and CDH20. The PolyPhen score of six variants viz., DST, RECQL4, NUMA1, THBS1, MYHI1 and SMARCA4 were high, which suggested these variants represents pathogenic variants. Two novel insertions that caused frameshift were also found. Furthermore, two novel nonsense mutations and 14 novel intronic variants were identified in this tumor. The novel missense mutation detected in ATM gene was situated in c.5808A>T; p. (Leu1936Phe) in exon 39, and a known ATM mutation was in c.5948A>G; p. (Asn1983Ser). These novel mutations had not been reported in previous database. Subsequently, the quality statistics of these variants, including allele coverage, allele ratio, P-value, Phred quality score, sequencing coverage, PolyPhen score and alleles frequency was performed. For all variants, P-value was highly significant and the Phred quality score was high. In addition, the results from sequencing coverage demonstrated that 97.02% reads were on target and that 97.88% amplicons had at least 500 reads. These findings may serve at determining new strategies to distinguish the types of choroid plexus tumor, and at developing novel targeted therapies. Development of NGS technologies in the Kingdom of Saudi Arabia may be used in molecular pathology laboratories. [ABSTRACT FROM AUTHOR]

Anorectal melanomas are exceptionally uncommon and only 30% of anorectal melanomas are amelanotic. We report here a case of an anorectal amelanotic melanoma in a female patient. An 84-year-old patient complained of anal mass for 3 months. On examination, there was a 7.0 cm mass prolapsing through the anus that was pale-pink in color. Abdominal, pelvic, and chest computed tomography (CT) showed rectal wall thickening with an eccentric polypoid soft tissue density mass, and left inguinal and presacral lymph node enlargement along with a small nodule in the lower lobe of the left lung, likely representing metastatic deposit. Microscopic examination revealed a piece of skin with hyperplastic squamous epithelium with surface ulceration. The dermis and underlining tissue were showing infiltration by malignant sheets and nests of ovoid and spindle shape cells with prominent nucleolus and high mitotic s. Immuno-staining for HMB-45, S-100, and Melan-A was positive, and it was negative for P63, CK 5/6, and Pan-CK, thus confirming it as an anorectal amelanotic melanoma, and not an epithelial tumor. This is the first case of an amelanotic anorectal melanoma reported from Saudi Arabia. [ABSTRACT FROM AUTHOR]

Purpose: This article reports the case of a single coronary artery with origin from a single ostium in the right sinus of Valsalva (RSOV) with an anomalous course of the left coronary artery anterior to the pulmonary trunk. Results: We present the case of an anomalous single coronary artery detected incidentally during routine coronary computed tomography (CT) angiography performed by a multislice CT method, using a 64-detector-row scanner. The CT examination revealed that the patient had a single large right coronary artery arising from the right sinus of Valsalva, dividing into the right coronary artery, left main coronary artery (LMCA), and left circumflex artery (LCX). The LMCA turned anteriorly in front of the pulmonary outflow tract, reaching the atrioventricular groove. The LCX artery passed posterior to the aorta (retro-aortic) and then between the left atrium and left ventricular outflow tract to reach its normal course on the left side. Conclusion: We present a rare case of single coronary artery congenital anomaly from the Makkah region of Saudi Arabia. This kind of coronary artery anomaly in the absence of stenosis could remain silent and asymptomatic. [ABSTRACT FROM AUTHOR]

Objectives: To determine the association between the numbers of clinical features either due to end stage renal failure (ESRF) or Secondary hyperparathyroidism (SHPT) and size of parathyroid gland. Methodology: An analytical study was carried out between 1st of January to 30th of June of 2006 by the collaboration of nephrology centre and radiology department of Al-Noor Specialist Hospital, Makkah, Saudi Arabia. Patients with (ESRF) on hemodialysis for more than 12 months, receiving medical treatment who had increased parathyroid hormone level with more than one clinical features of hyperparathyroidism were selected. Subjects were divided into two categories, having enlarged (A) and not enlarged (B) parathyroid glands. Ultrasonographic examinations of the neck were performed by using high frequency transducers in the range of 7.5 to 10 MHz by using Aloka pro sound 5500 machine. Pearson correlation (r) and linear regression analysis was done between number of clinical features and number of subjects in each category. Results: Only 17(31%) were found to have enlarged gland out of total 54 subjects. Males 32(59%) outnumbered the females. Subjects’ Parathyroid hormone ranged from 111-6047 pg/ml with mean 1266±994 (SD), while for subjects with enlarged glands the range was 820-6047 pg/ml with mean 1645±804 (SD). Number of subjects in category A were found to increase with increase in frequency of clinical features by doing regression analysis with correlation coefficient (r=0.98, p=0.002) while category B didn’t show any kind of correlation (r=0.36, p>0.54). Comparison of correlation by Fisher’s Z transformation of data a significant difference was found between categories A and B (p<0.05). Conclusion: Frequency of subjects with enlarged gland increased with increasing number of clinical features. [ABSTRACT FROM AUTHOR]

Objective: To study the prevalence of sternalis muscle in the Kingdom of Saudi Arabia (KSA) and resolve the question of its genesis by studying the innervation of this uncommon variant of anterior chest wall musculature., Methods: A morphological study of 75 adult cadavers of both sexes was carried out over a 5-year period by macroscopic dissection. We also retrospectively studied the medical records of 1580 adult females who had undergone screening and diagnostic mammographic imaging at King Khalid University Hospital, Riyadh, KSA, from 1997 to 2001., Results: Out of 75 cadavers studied, 3 cases of sternalis muscle were observed. Two adult male cadavers had well developed bilateral sternalis muscles whereas one female cadaver exhibited right sided unilateral sternalis. All 5 sternalis muscles were positioned vertically, in a parasternal position superficial to the medial part of pectoralis major and innervated by branches of intercostal nerves. None of the 1580 women, however, who had undergone mammographic imaging were found to be sternalis positive., Conclusion: Consistent with other geographic populations of the world, the frequency of sternalis in KSA is approximately 4%; however, its innervation by the intercostal nerves, as observed in our study is not common. This study highlights the need for familiarity with sternalis, which may mimic a focal density in medial breast craniocaudal mammograms and may be encountered during reconstructive surgery of breast and chest wall.