International Journal of Case Reports

  • Homocystinuria a rare cause of low BMD in young patients: A case report with literature review

    Background: Homocystinuira is a rare autosomal recessive disorder in the metabolism of sulfur-containing amino acid caused by mutations in the cystathionine beta-synthase gene which encodes the pyridoxine (Vitamin B6) dependent enzyme cystathionine beta-synthase. It is characterized by significant elevations in plasma and urine homocysteine concentrations, which could be associated with increased risk of fracture. Methods: We describe a case of Homocystinuria who suffered from a low impact patellar fracture with a literature review to highlight the critical relationship between homocysteine level and bone health. Results: We reported a 36-year-old female with a diagnosis of Homocystinuria due to pyridoxine (B6) unresponsive severe Cystathionine Beta-Synthase deficiency. After a minor knee injury she developed a right patellar fracture and her X-ray revealed osteopenia. On examination, she has severe scoliosis in the spine with bilateral aphakia (absence of the lens of the eye). Her labs showed, persistent high Homocysteine above 100 umol/L, Methionine: 383 umol/L (10-42), Vitamin D 12 ng/ml. Her spine X-ray revealed very severe scoliosis with osteopenia but no vertebra fracture. Her DXA scan showed her Z-Score was within the expected range for her age in hip, spine and 1/3 radius areas, however her ultra-distal radius Z-Score was -4.0. Her Homocystine level was mostly higher than 100 due to non-compliance with dietary advice and treatment. High homocysteine levels in Homocystinuric patients impair the function of bone cells that regulate bone remodeling as well as bone material properties such as collagen cross-linking. This imbalance between bone formation and resorption may lead to a low BMD and fracture in patients with homocystinuria. Interestingly, even in general population hyperhomocystinemia with a plasma level of more than > 13 nmol/ml has been found to be associated with low BMD and an increased risk of fractures that is independent of BMD. Deficiencies in vitamin B6, B12, or…

  • Solitary extramedullary plasmacytoma of prostate on the background of treated prostate adenocarcinoma

    Solitary Plasmacytoma is a rare entity which accounts for < 5% of all plasma cell dyscrasias. Most commonly involved sites for solitary extramedullary plasmacytoma are head and neck (90 %) especially upper respiratory tract, followed by Gastrointestinal tract. Rarely it can involve testes, bladder and orbit. PET/CT provides an invaluable imaging support for initial evaluation of additional plasmacytomas and response to treatment. There are no randomized trials regarding the best treatment approach. Generally, radiotherapy remains treatment of choice of solitary plasmacytoma. Our case, with its rare site of occurrence along with patient’s history of radiotherapy treated prostate malignancy and significant history of radiation cystitis provides a unique diagnostic and therapeutic challenge. Treatment can be personalised in cases such as this, where patients can be treated with chemotherapy in contrary to radiotherapy as further exposure to the radiations could exacerbate the bleeding risks.

  • Mucin-producing papillary thyroidal carcinoma with unusual histology: A rare case report

    Background: Although mucinous carcinoma or mucoepidermoid carcinoma of the thyroid gland are an extremely rare but an established entity, papillary thyroidal carcinoma (PTC) with mucin production is also exceedingly rare. Case report: We reported one rare case of mucin producing PTC with unusual histology. The patient was 71 years-old Japanese man. The hemi-thyroidectomy was performed. Histologically, the tumor cells harbored the similar features with conventional PTC, but this case indicated extracellular and intracellular mucin. On the other hand, the tumor showed cystic-papillary or cribriform growth of the columnar tumor cells. Conclusions: We diagnosed it as mucin-producing PTC with columnar cell variant (CCV). We examined it immunohistochemically, and this case expressed TTF-1, thyroglobulin, and cytokeratin (CK)7, but was negative for HBME-1. We discuss on the differential diagnosis.

  • The multifactorial etiology and approach to iron deficiency anemia in adolescent girls

    Iron deficiency anemia (IDA) is a common but underdiagnosed cause of morbidity in adolescent females. Associated thrombocytopenia is rare, but resolves when the anemia is treated with iron supplementation. Menorrhagia is an important cause in the multifactorial etiology and may be familial. This article presents a case of severe anemia and thrombocytopenia in the presence of iron deficiency due to menorrhagia. A holistic approach to IDA is discussed with an approach to the management thereof in adolescent females.

  • Merkel cell polyomavirus on primary Merkel cell carcinoma of the skin with partial regression after biopsy

    Introduction: Merkel cell carcinoma (MCC) is an uncommon primary cutaneous tumour. The majority of these tumour (about 80%) have integration of the polyomavirus DNA into the genome of Merkel cell carcinoma. Reports about at least nine cases of partial regression in primary and or metastatic lesions have been published. It is likely that regression is an immunological response mediated by T cells. Case Report: We report an 81year old woman who presented with a rapidly growing tumor in the left thigh. An incisional biopsy of the lesion was performed. Histopathologic and immunohistochemically diagnosis were consistent with Merkel cell carcinoma. Scant peritumoral lymphocytic infiltrate was CD3+, CD4+, and scant CD8+ was observed. The reporter test polymerase chain reaction (PCR) for Merkel virus yielded a positive result. Twenty days after the initial biopsy the lesion began to regress. Conclusion: Merkel cell carcinoma is a rare and aggressive tumour. At least nine cases of partial regression on primary and or metastatic lesions have been published. It is likely that regression is a T cell-mediated immunological response. A reporter test (PCR) for Merkel virus and both types of lymphocytic infiltrate and distribution (intratumoral and peritumoral) in our case very important as there are several known mechanisms that can contribute to cellular immune escape in MCP y V positive Merkel cell carcinoma. Study of integration and regulation of the immunological system implies future development of individually of different immunological therapies.

  • Individualized approach for Coarctation of the Aorta in a Patient with PHACE syndrome and Extensive Hemangiomas

    PHACE syndrome is a neurocutaneous disorder with large facial segmental hemangiomas associated with anomalies of the brain, eye and heart. We report a case of a 3 years old girl who presented at the age of 6 weeks with severe coarctation of the aorta and aortic arch aneurysm. In addition, she had extensive strawberry hemangiomas over the scalp, neck and chest which, after extensive investigation, led to the diagnosis of PHACE syndrome. After complete evaluation we successfully initiated treatment with propranolol that was pursued without complications over three years with striking success and remarkable regression of her hemangiomas. Meanwhile the coarctation was managed conservatively. This case highlights that propranolol treatment, while effective against hemangiomas, may contribute to slow the progression of aortic arch aneurysm and delay the need for high risk surgical intervention.

  • Surgical Correction of Intra-Areolar Polythelia

    Intra-areolar polythelia (IAP) is an extremely rare congenital malformation with the presence of two or more nipples within a normal sized areola. This is a case report of a 25-year-old gentleman who presented with two nipples on the areola of his left breast since birth. Surgical excision was done under local anesthesia for aesthetic purpose.


    A pre-auricular sinus will rarely present in coexistence with a post-auricular dermoid cyst. The coexistence of a discharging pre-auricular sinus with a post-auricular dermoid cyst presents a diagnostic challenge. Without meticulous history taking and physical exam, one would subject the patient to aggressive and unwarranted investigation and management modalities as though the infected post-auricular dermoid cyst were a mastoid abscess. We present a 15-year-old male who presented to the ENT clinic of Mulago National Referral Hospital and was diagnosed with an infected pre-auricular sinus with an infected post-auricular dermoid cyst.

  • An accessory aberrant testicular artery branching from the inferior suprarenal artery: embryologic and genetic consideration

    During routine educational dissection of a cadaver (61-year-old, male, white descent), multiple aberrant right testicular artery and veins were discovered. Detailed analysis of the abdominal vascular pattern showed that the accessory aberrant testicular artery branched off the right inferior suprarenal artery. It crossed the anterior pararenal space, gave several branches to the soft tissues of the posterior pararenal space, and descended towards the deep inguinal ring. The accessory aberrant testicular vein accompanied the aberrant artery and was drained by the right inferior suprarenal vein into the renal one. Two other testicular veins followed a typical course and opened into the inferior vena cava. The anatomical variability reported in this paper requires attention of the related specialists, as it may significantly complicate surgical and minimally invasive procedures on the organs of the retroperitoneal space and inguinal region. Thorough preoperative investigation regarding the variability of the vascular pattern should be conducted in patients considered for intervention on the adrenal gland, kidney, or testis.

  • Autologous Tenocyte Implantation for the Treatment of Chronic Degenerative Rotator Cuff Tendinopathy

    The use of injectable cell therapies to treat tendon pathology has become significantly more popular in recent years. They are appealing treatment modalities as they are minimally invasive, autologous, non-surgical management options which theoretically allow tendon regeneration and return to function. This case report will focus on the use of autologous tenocyte implantation (ATI) injection therapy to treat chronic degenerative rotator cuff tendinopathy.