Galactosemia is an autosomal recessive inherited disease of galactose metabolism. In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy with galactosemia presented with arthralgia, hands deformity and decreased bone mineral density.
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http://dx.doi.org/10.31138/mjr.30.2.123 | DOI Listing |
Cureus
December 2024
Internal Medicine, Leicester Royal Infirmary, Leicester, GBR.
Miller-Fisher syndrome (MFS) is characterized by the three major components of ophthalmoplegia, ataxia, and areflexia. The occurrence of MFS is relatively uncommon because of its monophasic nature, while recurrent Guillain-Barré syndrome (GBS) is a well-known condition. The pharyngeal-cervical-brachial (PCB) variant is a scarce variant of GBS (3%), which presents with muscle weakness initially involving the neck, oropharynx, and upper extremities.
View Article and Find Full Text PDFTurk J Ophthalmol
December 2024
Kastamonu Training and Research Hospital, Clinic of Ophthalmology, Kastamonu, Türkiye.
We present the case of a patient who came to the emergency department with a significant decrease in vision and dilated pupil in the left eye. Since neurological pathologies were primarily considered, diffusion brain magnetic resonance imaging (MRI) and brain computed tomography (CT) were requested. After the results were reported as normal, we were consulted.
View Article and Find Full Text PDFCase Rep Med
December 2024
Operative Unit of Neonatology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Congenital arhinia and hyporhinia are rare facial anomalies whose knowledge usually comes from case reports. The severity of each case described in literature is variable; it also depends on associated malformations too. Since the newborns are obligate nasal breathers, babies with arhinia or hyporhinia usually have respiratory distress and need airway stabilization.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Department of Internal Medicine and Endocrinology, University Clinical Centre of the Medical University of Warsaw, Warsaw, Poland.
Front Med (Lausanne)
December 2024
Department of Gastroenterology, The First Affiliated Hospital of Dali University, Dali, Yunnan, China.
Lymphangioleiomyomatosis (LAM) is a rare, low-grade malignant condition that typically affects women of childbearing age and primarily involves the lungs. While cases involving males and affecting the gastrointestinal tract are exceedingly uncommon. This report discusses an unusual case of abdominal LAM in a male patient with gastrointestinal hemorrhage.
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