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Vitamin B12 transport defects

Vitamin B12 transport defects Overview Vitamin B12 transport defects are rare congenital disorders, such as Transcobalamin II (TC II) deficiency, that prevent cobalamin from reaching tissues, causing severe cellular deficiency despite normal serum B12 levels. These genetic conditions lead to megaloblastic anemia, developmental delay, and neurological issues in infants, often requiring lifelong treatment. Symptoms Neurological Symptoms (Severe): Developmental delays, ataxia (difficulty walking), tremor, convulsions, hypotonia (weak muscle tone), and tingling or numbness (paresthesia). Hematological Issues: Megaloblastic anemia, causing profound fatigue, weakness, dizziness, and pale or yellowish skin. Gastrointestinal Distress: Persistent vomiting, diarrhea, and failure to gain weight/grow properly in infants. Mucosal and Skin Issues : Sore mouth or tongue (glossitis), skin hyperpigmentation, and dermatitis. Psychological Changes: Irritability, confusion, and potential cognitive decl...
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Villous adenomas

Villous adenomas Overview Villous adenomas are benign, often sessile (flat) gastrointestinal tumors, primarily found in the rectum and sigmoid colon, characterized by high malignant potential (up to 50% for large lesions). They are defined by long, finger-like projections (villi) and carry a high risk of severe dysplasia. Large adenomas may cause rectal bleeding, mucus discharge, and diarrhea Symptoms Rectal Bleeding: Blood in the stool or on toilet paper, often associated with a large, delicate mass Excessive Mucus Discharge: A distinct, often excessive, watery mucous discharge. Diarrhea or Constipation: Changes in bowel habits are common, including alternating diarrhea and constipation. Abdominal Pain/Cramping: Ongoing lower abdominal discomfort, often related to the size of the growth. Anemia and Fatigue: Chronic bleeding can lead to iron-deficiency anemia and associated weakness. Rectal Prolapse: Rare cases of very large polyps can prolapse through the anus. Causes Genetic Mut...
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Persistent Vegetative State

Persistent Vegetative State Overview A persistent vegetative state (PVS) is a disorder of consciousness where patients appear awake but are entirely unaware of themselves or their environment. It is characterized by preserved autonomic brainstem functions (breathing, sleep-wake cycles) alongside a complete lack of cognitive function or purposeful response. It often results from severe traumatic brain injury or oxygen deprivation (hypoxic-ischemic damage) Symptoms Unawareness: Total lack of ability to interact with the environment or demonstrate self-awareness. Awake but Unresponsive: Eyes may be open and move (roving eye movements), but they do not fixate or track objects consistently. Reflexes: Preservation of brainstem reflexes (chewing, swallowing, yawning, pupillary response). Motor Activity: No purposeful movement, though primitive reflexes (grasping) and non-purposeful movements (grimacing, posturing) may occur. Incontinence: Lack of bowel and bladder control Causes PVS is ca...
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Hypersomnia

Hypersomnia What is hypersomnia? Hypersomnia is any condition that makes you feel extremely sleepy during the day. This happens even though you get a healthy amount of sleep (or more than enough). Everyone wishes they could take a midday nap once in a while. But hypersomnia is more serious. It’s more than feeling drained after a long meeting or double-block class period. If you have hypersomnia, you can’t control when you feel sleepy. You may fall asleep several times during the day, usually without meaning to. Hypersomnia can affect your ability to go to school or work. It can make it hard to maintain relationships with loved ones. You’ll also have a higher risk of accidents and injuries. Talk to a healthcare provider if you feel tired all the time or feel like you can’t control when you fall asleep. Symptoms Symptoms of hypersomnia can include: Anxiety, irritability Constant or repeated episodes of extreme sleepiness during the day Decreased energy Difficulty waking up in the morning...
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Velocardiofacial Syndrome

Velocardiofacial Syndrome  Overview Velocardiofacial syndrome, or 22q11 deletion syndrome, is known by many names, including Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, or conotruncal anomaly face syndrome. The name Velocardiofacial syndrome comes from the Latin words “velum” meaning palate, “cardia” meaning heart, and “facies” having to do with the face. VCFS includes many common features: cleft palate, heart defects, and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems. Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. It is estimated that one in 2,000 to 5,000 children per year are born with Velocardiofacial syndrome, and more than 130,000 individuals in the United States have this syndrome. Since the initial description of this syndrome, many other parts of the body have been reported to be involved. Many of the affected body systems are: Immune system...
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VATER Syndrome

VATER Syndrome Overview VATER syndrome (VACTERL association) is a group of growth abnormalities (birth defects) that happen in the early stages of embryo development during pregnancy. The term VATER is an acronym that identifies parts of the body that didn’t form properly during fetal development. Each case of VATER syndrome is unique. A diagnosis occurs if your child has at least three parts of their body affected by symptoms. What does the acronym VATER/VACTERL stand for? The acronym VATER stands for parts of the body affected by symptoms including: Vertebrae. Anus. Trachea. Esophagus. Renal (kidney). A redefinition of VATER syndrome changed the acronym to VACTERL to highlight other parts of the body affected by this condition including: Cardiac (heart). Limbs and radius. Symptoms Symptoms of VATER syndrome affect different parts of the body (anatomical structure) that can be present at birth (congenital) or appear later in life. Symptoms are unique to each person diagnosed with the ...
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Vascular Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome Overview Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders that mainly affect your body's connective tissues, such as ligaments, tendons, and cartilage. There are 13 types of this condition, with vascular EDS being type IV. While extremely rare, it’s also especially severe. People with this subtype of EDS have very fragile arteries and internal organs Symptoms The most common symptoms of vascular Ehlers-Danlos syndrome include: Skin differences. People with this condition have thinner, translucent and delicate skin (making veins very visible). Certain areas of skin will also age faster than others, especially skin on your hands and feet. Distinctive facial features . People with this condition usually have unusually thin lips and nose, a small chin and eyes that are large and far apart. They may have very small or no eyebrows. They also are more likely to have very small earlobes or no earlobes at all, and their ears will stick out ...
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