In this study, we report a 26-year-old female case of Niemann–Pick disease type C in association with Fuchs heterochromic iridocyclitis who was admitted with the complaint of ocular pain and redness following trauma. She had mild inflammatory signs and also vertical ocular motility limitations.

Adams–Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia cutis congenita and limb anomalies as well as mild pachygyria and focal acrania in neuroimaging. No other internal organ involvement was obvious in this patient. Family history was negative for this syndrome. AOS is a multisystem disorder, and so it is crucial to investigate for internal organ involvements.

Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities. This autosomal recessive disorder leads to accumulation of homocysteine and its metabolites in the blood and urine. In this report, we present a case with clinical and biochemical findings of homocystinuria with stroke and a positive familial history of the disease in her brother. A 4-year-old girl was admitted to pediatric emergency ward because of acute onset of right hemiparesis and subsequent generalized tonic–clonic seizures. Cranial magnetic resonance imaging revealed acute infarct areas in the left cerebral hemisphere. Metabolic screening revealed elevated concentrations of serum homocysteine and methionine and a normal serum concentration of vitamin B12. These findings, along with a positive familial history led to the diagnosis of homocystinuria. In any child who presents with stroke, some rare condition such as homocystinuria should be considered in diagnosis.

Nonneoplastic demyelinating processes of the brain with mass effect on magnetic resonance imaging can cause diagnostic difficulties. It requires differential diagnosis between the tumefactive demyelinating lesion and the coexistence of neoplasm. We document the case of 41-year-old woman with clinical and radiological findings suggestive of multiple sclerosis. Additional investigations confirmed the coexistence of astrocytoma. This report emphasizes the importance of considering brain tumors in the differential diagnosis of primary demyelinating disease presenting with a cerebral mass lesion.

Hirayama's disease is a rare clinical variant of amyotrophic lateral sclerosis where distal muscles are involved more compared to proximal muscles and vice-versa occurs only in 10% cases and so it is differentiated from O'Sullivan McLeod syndrome which involves only small muscles of single limb. Here, we present a case of Hirayama's disease where disease achieved a plateau after 3 years with no further progression. His electrophysiological studies, and clinical picture, and magnetic resonance imaging findings were consistent with a diagnosis of Hirayama's disease.

Most of the vascular lesions on head and neck soft tissue are congenital, but a rare cause can be trauma. A 23-year-old man came to our clinic with a wide pulsatile tortuous mass in the left temporofrontal area. That mass was appeared since 10 years ago. Ten years before his coming to our clinic, he had a blunt trauma in that area. After that, a small wound appeared there and healed gradually. In clinical examination, mass was large and pulsatile, and a fine murmur was detected from it. In paraclinical examination, computed tomography scan with intravenous contrast and sonography revealed a vascular mass with arteriovenous (AV) fistula in soft tissue only in that area. We operated him and vascular mass completely excised without recurrency. Pathologic report was AV malformation (AVM). According to our study, also rare trauma is one of the causes of AVMs, and we able to resection it completely without recurrency.

An orbital defect causes severe facial asymmetry and disfigurement that result in an immense emotional trauma to the patient and is also associated with economic, esthetic, and psychological problems. A prosthetic replacement is the treatment of choice in helping individual to return to his normal life by producing an acceptable and lifelike appearance. This case report describes the critical areas of fabrication of ocular prosthesis for a patient with missing right eye due to trauma to eye ball in an accident. Patient had given a history of surgical enucleation of the eye 15 days after ocular trauma. A polymethyl methacrylate ocular prosthesis was planned. The technique described in this case report presents the use of both custom-made and stock eye shell in an attempt to include the benefits of both. A novel attempt was made to simulate eye movements and exact color matching to that of contralateral eye to provide a better and functional ocular prosthesis to the patient.

To report a case of upper eyelid swelling and ptosis caused by silicone oil migration in a patient after sutureless 23-gauge pars plana vitrectomy and silicone oil injection. A 36-year-old female was referred to eye clinic with total retinal detachment (RD) and superotemporal giant dialysis secondary to trauma in the left eye. Transconjunctival sutureless 23-gauge pars plana vitrectomy and intraocular silicone oil (1300 centistokes) injection were performed. After about 5 months, she came back with the left upper eyelid and periorbital swelling. Palpation of the eyelid revealed soft and mobile subcutaneous small lumps that were not attached to the skin. Computed tomography scan of the orbit showed an 11 mm × 8 mm soft tissue density mass in lateral aspect of the left orbit. Transcutaneously surgical exploration was performed. The patient was seen after 1 week postoperatively and there was a significant improvement of the ptosis. Eyelid swelling and ptosis caused by silicone oil migration after RD surgery are very rare and this is one of the few reports in literature.

Placental site throphoblastic tumor (PSTT) is a rare manifestation of gestational trophoblastic neoplasia that may complicate any type of pregnancy. The disease is unique from other type, and is defined by slow growth, low human chorionic gonadotropin (hCG) serum levels, the late-onset metastatic potential, and most significantly, insensitivity to chemotherapy. We describe a case of a 31-year-old woman with prolonged amenorrhea and slightly elevated serum beta hCG (βhCG) level, referred for termination of abnormal pregnancy. During curettage, necrotic tissue was removed and severs vaginal bleeding was controlled with medical therapy. Histology examination showed neoplastic intermediate trophoblastic cells with invasion to the vessel wall compatible with PSTT. After that, hysterectomy was down and serum βhCG declined to undetectable level 2 weeks after surgery and was followed for 2 years without complication.

Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.

We report a case of malignant transformation of an intracranial extradural epidermoid cyst into squamous cell carcinoma (SCC), that presented with cerebrospinal fluid (CSF) leakage at the time of recurrence. Intracranial epidermoid cysts are histologically benign and slow-growing neoplasms. They are congenital lesions that develop from ectodermal remnants during neuroembryogenesis. Malignant transformation of epidermoid cysts into SCC is very rare. Various clinical presentations of these tumors after malignant transformation are mentioned in the literature. None of the previous cases, presented with CSF leakage as the recent case did. In cases of malignant transformation, surgical resection and then adjuvant radiation therapy are highly recommended.