A 14-year-old boy presented with a right orbital lid mass, which had slowly grown over the last 4.5 years, as well as some impaired visual acuity in the affected (right) eye. We assessed the patient by taking a detailed history and physical examination. A Snellen chart was used to assess visual acuity, which revealed decreased acuity in the right eye as compared to the left eye. Pupillary reactions, including relative afferent pupillary reflexes, were unremarkable; anterior and posterior chamber assessment was normal including that of the optic disc and macula. Additionally, the intraocular pressure was within acceptable limits. The mass was excised surgically as it had caused significant disfigurement and posed risk to the patient in terms of the possibility for the lesion to increase in severity. It was an approach utilizing a blepharoplasty incision, horizontal wedge resection, and a frontalis sling done under general anesthesia. A biopsy of the mass identified it as a plexiform lesion of the orbit such as that attributed to neurofibromatosis type 1.
In the following report, we document a case of gastroesophageal reflux disease (GERD) emerging from a peculiar etiology. A 20-year-old male presented to the out-patient department (OPD) of ear, nose & throat (ENT) of Dow University Hospital in Karachi, Pakistan, by referral from remote hospitals with a complaint of stomach upset. Upon a detailed historical assessment of the patient, the picture of a convoluted path to diagnosis emerged. Considering the patient's short stature and a bony mass on the mandible, a full body bone scan was ordered, uncovering a brown tumor. An elevated serum parathyroid hormone (PTH) level was detected in the presence of elevated serum calcium and low vitamin D levels. Upon subsequent computed tomography (CT) and magnetic resonance imaging (MRI), a cystic tumor of the pancreas was discovered in addition to a parathyroid adenoma which was promptly operated upon through a right-sided parathyroidectomy. The procedure successfully controlled the serum calcium levels of this patient which are suspected to have produced his gastroesophageal reflux-related symptoms. This case highlights the importance of accessible medical infrastructure and one of the unique causes of GERD.
A 15-year-old girl presented with the complaint of a cosmetically disfigured right eye since birth. The initial assessment was carried out by way of a history and physical examination. The patient's history revealed no significant findings. Physical examination revealed that the right ophthalmic socket was seemingly devoid of an identifiable globe and ocular tissue, which is described as an anophthalmic socket. The conjunctival fornices appeared short, a finding which was more noticeable in the inferior conjunctival fornix. The patient's orbital volume was decreased. To increase the orbital volume, a dermis fat graft (DFG) was carefully taken from the gluteal region. The graft was then transposed to the anophthalmic socket and sutured to the conjunctiva and Tenon's capsule. A prosthetic eye was placed in the socket. Later, a second surgical intervention was performed to deepen the inferior fornix, for which a mucous membrane graft was taken from the lower lip. As a result of these interventions, all cosmetic and medical concerns of the patient regarding the anophthalmic socket were addressed. The success of this procedure speaks to the efficacy of DFGs in the repair of an anophthalmic socket.
Niemann-Pick disease has an autosomal recessive inheritance pattern and occurs due to a deficiency of a lysosomal enzyme, sphingomyelinase. It causes variable clinical signs and symptoms such as hepatosplenomegaly, delayed milestones, and peripheral cytopenia due to bone marrow involvement. Here, we report a case of a child who presented with hepatosplenomegaly and pancytopenia, who was later found to have Niemann-Pick disease on bone marrow examination. This case highlights the case presentations of this rare disease and the importance of bone marrow trephine in prompt diagnosis and management of a patient.
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