by Tania- Tofail, Fariduddin M, Haq T, Selim S, Jahan S, Khan MA, Mustari M, Banu H, Datta NK, Islam MA, Hossain MS and Hasanat MA
Case Study
We present a 16-year girl, second issue of a consanguineous couple presented with painless symmetrical bony swellings around hips for 3 years. She lost 25 kg weight due to profound anorexia in the first year of illness and developed secondary amenorrhea. Last 7 months she had repeated generalized tonic clonic seizure due to hypocalcaemia. The bony swellings were located in both gluteal regions and were 30x35 cm2, hard and non tender. Mobility of hip joints were restricted. Except for severe wasting as a part of generalized cachexia other systemic examination was unremarkable. Investigations revealed anaemia (Hb-E trait), low albumin, low corrected calcium (during convulsions) otherwise normal, persistently high phosphate & vitamin-D level, normal iPTH & alkaline phosphatase (ALP), low serum ascorbic acid, normal ESR & CRP. X-ray & CT scan of pelvis showed large calcified mass in periarticular soft tissues. Biopsy confirmed presence of dystrophic calcification. Diagnosis of tumoral calcinosis was based on biochemical parameters, imaging and biopsy findings. A homozygous novel mutation in FGF homology domain: B-21 mutated from G to A at 232 in exon 2. As a result glutamic acid is replaced by lysine. Phosphate restricted diet and phosphate lowering agent improved biochemical paramaters. Surgical excision has been withheld. Contemporary manifestation of hFTC and Hb E trait; two disease of autosomal recessive inheritance in an individual makes it extremely rare. High index of suspicion is needed for early diagnosis and treatment.
American Journal of Medical Case Reports. 2018, 6(5), 99-102. DOI: 10.12691/ajmcr-6-5-6
Pub. Date: June 21, 2018
10387 Views2547 Downloads
by Zahra Jan Amiri, Youssef Moghimi Boldaji and Ali Kiani Nazarlou
Original Research
Introduction: Diffusion-weighted imaging (DWI) and the apparent diffusion coefficient (ADC) map have an important role in the diagnosis and differentiation of brain tumors. Since the use of ADC for differing glioma of primary brain lymphoma (PBL) tumors is controversial and requires further investigation, the aim of this study was to use diffusion-weighted MRI for determining the ADC values of glial tumors and the relationship between glioma and PBL tumors. Methods: This cross-sectional retrospective study is carried out by reviewing documents, images, and ADC brain MRIs of 60 patients (26 males, 34 females) admitted to Shohada Hospital from 2006 to 2016 in Tehran after brain biopsy. The ADC values were measured in the tumor area from diffusion images of the brain with b-values of 0 and 1000 s/mm2. For data analysis, ANOVA and the Tukey post hoc test were used. Results: The ADC values of astrocytoma grade 2 were significantly greater than other grades of glioma and PBL tumor (P < 0.05). However, there were no statistically significant differences among the ADC values between anaplastic grade 2 and glioblastoma grade 4. In addition, the ADC values of the PBL were significantly lower than those of astrocytoma grade 2 (P < 0.05). Conclusions: The results of this study showed that the ADC values in the astrocytoma grade 2 were higher than the PBL. Thus, knowledge of the ADC values can be helpful in better diagnostics of astrocytoma and PBL cases and for future studies.
American Journal of Medical Case Reports. 2018, 6(5), 92-98. DOI: 10.12691/ajmcr-6-5-5
Pub. Date: June 19, 2018
9676 Views1814 Downloads
by Zahra Janamiri, Vahid Shahmaei and Yousef Moghimi Boldaji
Original Research
Introuction: Meningiomas represent the most common primary brain tumor and comprise 3 World Health Organization (WHO) grades, the most frequent being WHO grade I (90%). In this study, we aim to investigate the prevalence and features of peri-tumoral edema of these lesions on Magnetic Resonance Imaging and their relationship with progesterone receptor (PR). Methods: From August 2011 to December 2017, we have enrolled 281 patients diagnosed with meningiomas of central nervous system, who underwent thorough imaging evaluation of diameter, size, volume and peri-tumoral edema on MRI. Of these patients, 187 patients were candidates of either surgical resection of biopsy, who were evaluated for PR by histopathological examination and immunohistochemistry (IHC) study after surgical removal. Results: Authors have found that meningiomas with higher PR positivity, represents lower volumes and also they appear as less aggressive lesions on neuroimaging. Also, we have found that meningiomas with higher PR positivity in IHC study, represents lower peri-tumoral edema on T1- and T2-weighted MRIs. On the other hand, our surgical experience showed that patients with more PR positive meningiomas, exhibit prolonged disease, with lower rate of hemorrhages. Conclusion: In this study, we have found that meningiomas with higher PR positivity, represents lower peri-tumoral edema and thus lower neurological complications; However, more advanced histopathological examination for other receptors may improve prognosis determination.
American Journal of Medical Case Reports. 2018, 6(5), 89-91. DOI: 10.12691/ajmcr-6-5-4
Pub. Date: June 15, 2018
6317 Views1704 Downloads
by Asad Ullah and Zeeshan Khakwani
Case Report
A 67 year old man presented with right sided flank pain, flu like symptoms and cough. Initial chest x-ray was unremarkable. Serology was positive for pertussis and a repeat chest x-ray for ribs showed a rib fracture. He received supportive treatment with improvement of his symptoms.
American Journal of Medical Case Reports. 2018, 6(5), 87-88. DOI: 10.12691/ajmcr-6-5-3
Pub. Date: June 15, 2018
6767 Views1807 Downloads
by Tariq Al-Saadi, Ahmed Al Habsi and Zahra Al Hajri
Case Report
Background:Congenital dermal sinus tract (DST) is a rare entity of cranial or spinal dysraphism that may occur anywhere from nasion and along the midline neuraxis from occipital to sacral regions. Craniospinal infection caused by occipital DST is even rarer. Because of their scarcity, these lesions are not well documented in the literature, often mixed with dermal sinuses in other location or other dysmorphic features. This paper reports a unique case of an infant presented with craniospinal abscesses resulting from occipital dermal sinus tract. Methods and materials: In this paper, we report a case of a 16-month-old girl presented with high grade fever, vomiting and lethargy. She had a discharging occipital skin lesion. Her diagnosis was "Occipital DST with Cerebellospinal Abscess", which was treated successfully by excision of the DST and cerebellar abscess. Histopathological examination revealed a dermoid cyst. She received 8 weeks of parenteral antibiotic treatment with a good outcome. Results: Occipital DST is a rare condition. Its clinical presentation varies and clinical suspicion is required. Early neurosurgical intervention is important to prevent the risk of potential complications such as abscess and bacterial meningitis. Conclusion: This case highlights the importance of early recognition and evaluation of midline craniospinal cutaneous stigmata in infant. Further neurosurgical assessment with radiological investigations are recommended for early detection and management. Once diagnosed is made, surgical intervention and appropriate antibiotic therapy are the mainstay of treatment.
American Journal of Medical Case Reports. 2018, 6(5), 81-86. DOI: 10.12691/ajmcr-6-5-2
Pub. Date: June 08, 2018
10094 Views1916 Downloads
by Ali Al Mashani, Neeraj Salhotra, Nilay Chaterji, Mohammad Hadad, Mohammad Hashim and Tariq Al Saadi
Case Report
Subdural haemtoma developing after a lumbar puncture is an an uncommonly seen entity but is reported in literature. We also encountered a young lady who underwent accidental lumbar puncture during epidural anesthesia for caesarian section and later started complaining of headache. Examination did not reveal any gross sensory motor deficit. MRI brain done for headache however picked up the subdural hematoma with pressure effects. Patient underwent burrhole and evacuation of subdural hematoma. Postoperative period was uneventful Patient was discharged home with advice to follow up in OPD.
American Journal of Medical Case Reports. 2018, 6(5), 79-80. DOI: 10.12691/ajmcr-6-5-1
Pub. Date: June 07, 2018
8765 Views1734 Downloads1 Likes