Rare Diseases

Newborn Screening for Rare Diseases: Early Diagnosis, Treatment Essential A parent's story with two different outcomes illustrates why newborn screening is so important in the early diagnosis and treatment of rare disorders.
The National Organization for Rare Disorders, February 27, 2017

Rare Diseases Perspective

Understanding the Nuanced Management of Acromegaly Acromegaly is a rare endocrine disorder that is often misunderstood. Medscape interviewed Dr Laurence Katznelson to get the facts you need to know.
Endocrine Society, December 12, 2018
Periodic Paralysis: Shedding Light on a Rare Neurologic Disorder This infrequent neuromuscular disorder is commonly mistaken for a multitude of other disorders, but diagnosis can be confirmed with key clues and genetic testing.
Medscape Neurology, October 29, 2018

Cannabidiol Use in Refractory Epilepsy The recent FDA approval of cannabidiol provides another treatment option for refractory epilepsy. Find out what there is to know.
Pediatric Pharmacotherapy, February 18, 2019
Unilateral Adrenalectomy for Primary Nodular Adrenal Disease Unilateral adrenalectomy may be a safe and affective therapeutic option for patients with primary pigmented nodular adrenal disease.
Journal of the Endocrine Society, February 18, 2019

Psychotic Behavior and Loss of Speech in a 34-Year-Old Woman
A 34-year-old woman has a 4-year history of psychotic behavior and neurocognitive decline. She has also demonstrated progressive motor regression and loss of speech. What's the diagnosis?
Young Girl With Clumsiness, Dystonia, and Speech Difficulty
A 17-year-old girl who has demonstrated progressive clumsiness over the past 6 months now displays dystonic movement of her limbs and deteriorating speech and ability to walk. What's the diagnosis?
A 49-Year-Old Man With Pain at the Site of a Previous Fracture
A 49-year-old man with a history of cervical spine fracture, diabetes mellitus, and hearing loss presents with increasing pain at the site of a previous femoral fracture. What's the diagnosis?

Mucopolysaccharidosis type II
MPS II, also known as Hunter syndrome, is a member of a group of inherited metabolic disorders collectively termed the mucopolysaccharidoses (MPSs). The MPSs are caused by a deficiency of lysosomal enzymes required for the degradation of mucopolysaccharides or glycosaminoglycans (GAGs). Eleven distinct single lysosomal enzyme deficiencies are known to cause 7 different and recognized phenotypes of MPS. All of the MPSs are inherited in an autosomal recessive fashion, except for Hunter syndrome, which is inherited as X-linked recessive.
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, chronic, debilitating disorder that most frequently presents in early adulthood and usually continuous throughout the life of the patient. PNH results in the death of approximately 50% of affected individuals due to thrombotic complications and, until recently, had no specific therapy...
Arginase Deficiency
A history of delayed development, protein intolerance, and spasticity is suggestive of arginase deficiency. The typical presentation is that of an older infant whose development is delayed, who has occasional episodes of vomiting and somnolence without apparent cause, who is protein intolerant, and who shows evidence of long-tract neurological impairment.