Health and Fitness

Neuromyelitis Optica Spectrum Disorder Overview Neuromyelitis optica spectrum disorder (NMOSD), also known as Devic disease, is a chronic disorder of the brain and spinal cord dominated by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). Classically, it was felt to be a monophasic illness, consisting of episodes of inflammation of one or both optic nerves and the spinal cord over a short period of time (days or weeks) but, after the initial episode, no recurrence. It is now recognized that most patients satisfying current criteria for NMOSD experience repeated attacks separated by periods of remission. The interval between attacks may be weeks, months or years. In its early stages, NMOSD may be confused with multiple sclerosis (MS). Symptoms The characteristic symptoms of NMOSD are either optic neuritis or myelitis; either may occur as the first symptom. Optic neuritis is inflammation, of the optic nerve (optic neuritis) leading to pain i...

Neurofibromatosis Overview Neurofibromatosis (NF) is a group of neurological and genetic conditions. It causes symptoms that may affect your brain, spinal cord, nerves and skin. Symptoms vary and depend on the neurofibromatosis type but can include birthmarks and the growth of usually noncancerous (benign) tumors. You may inherit this condition from your biological family, but up to 50% of cases happen randomly, without any biological history. What are the types of neurofibromatosis? There are three types of neurofibromatosis: Neurofibromatosis type 1 (NF1): NF1 is the most common type. It causes café au lait spots, nerve tumors (neurofibromas), armpit and groin freckles, eye nerve tumors and bone deformities (scoliosis). NF2-related schwannomatosis, formerly known as neurofibromatosis type 2 (NF2): NF2-related schwannomatosis causes slow-growing nerve tumors, hearing changes, vision changes (cataracts) and numbness or weakness (peripheral neuropathy). Schwannomatosis (SWN): SWN is th...

 Nephropathic Cystinosis Overview Nephropathic cystinosis, also known as infantile or early-onset cystinosis, is a severe, inherited disorder where cystine, an amino acid, builds up in the body's lysosomes (cellular compartments that break down waste). This buildup primarily affects the kidneys, leading to a condition called Fanconi syndrome, and if left untreated, can progress to end-stage renal disease. It's caused by mutations in the CTNS gene, which is responsible for producing the cystinosis protein, a lysosomal transporter.  Symptoms Kidney Dysfunction: Fanconi Syndrome: The kidneys lose essential substances like sodium, potassium, phosphate, and glucose in the urine, leading to electrolyte imbalances.  Polyuria and Polydipsia: Excessive urination and thirst due to the kidneys' inability to concentrate urine.  Dehydration: Can result from fluid loss due to excessive urination.  Growth Impairment : Children with nephropathic cystinosis often experience fai...

Netherton Syndrome Overview Netherton syndrome is a rare genetic disorder that affects the skin, hair and immune system. The disease causes scaly skin sparse, thin, easily breakable hair and increased susceptibility to allergies and dry, flaky, red skin (atopic eczema). Symptoms appear at birth and can be severe and life-threatening; however, they tend to improve in adulthood. Netherton syndrome is caused by changes (variants) in the SPINK5 gene and is inherited in an autosomal recessive pattern. Netherton syndrome falls within a group of skin diseases called ichthyoses. Ichthyoses cause scaling of the skin because of abnormalities with how skin cells develop and shed. The skin barrier is defective in Netherton syndrome, which can increase the risk of infection. Symptoms and their severity differ from person to person. Genetic testing is required for diagnosis of Netherton syndrome. No specific treatment is approved for the disease in particular, but many options exist for minimizing s...

 Myotonia Congenita Overview Myotonia congenita is a rare genetic condition that causes myotonia. This prevents your muscles from relaxing properly after they contract. For example, your child might not be able to let go of a toy right away after they grasp it. Myotonia congenita begins in childhood or adolescence. It can cause other symptoms, like muscle stiffness and muscle overgrowth (hypertrophy). Healthcare providers classify it as a non-dystrophic myotonia disorder. In other words, the structure of your child’s muscles remains healthy, but the electrical process that regulates your child’s muscle contraction is abnormal. There are other disorders with myotonia, called dystrophic myotonias, in which the muscle structure is affected. Any difference in how your child’s body works can cause worry and panic. But know that myotonia congenita is a condition that doesn’t typically get worse. Physical therapy and other accommodations can make the symptoms manageable Types of myotonia ...

Myalgic encephalomyelitis Overview Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complicated disorder. It causes extreme fatigue that lasts for at least six months. Symptoms worsen with physical or mental activity but don't fully improve with rest. The cause of ME/CFS is unknown, although there are many theories. Experts believe it might be triggered by a combination of factors. There's no single test to confirm a diagnosis. You may need a variety of medical tests to rule out other health problems that have similar symptoms. Treatment for the condition focuses on easing symptoms. Symptoms Symptoms of ME/CFS can vary from person to person, and the severity of symptoms can fluctuate from day to day. In addition to fatigue, symptoms may include: Extreme exhaustion after physical or mental exercise. Problems with memory or thinking skills. Dizziness that worsens with moving from lying down or sitting to standing. Muscle or joint pain. Unrefreshing sleep. Some peo...

 Multicystic Dysplastic Kidney Overview Multicystic dysplastic kidney is a condition in which the kidney has been essentially replaced by multiple cysts. It is the result of abnormal fetal development of the kidney. There is little or no normal function to this kidney. Thanks to prenatal ultrasound, most instances of multicystic dysplastic kidney are discovered prior to a child's birth. The incidence is approximately 1 in 4,300 live births. Occurrence of multicystic dysplastic kidney is about equal between males and females, and the condition is most common in Caucasians. At Boston Children's Hospital, our extensive resources for monitoring and, if necessary, performing surgical removal of kidneys include laparoscopic surgery — a minimally invasive operating technique that reduces the size of the incision and shortens your child's recovery time. Symptoms It is important to have your child evaluated by a pediatric urologist after birth since the risk that the normal kidney m...