Aicardi Syndrome

No history of skin disease. Skin is pink, dry, and void of bruising, rashes, or lesions. No recent hair loss; head is normocephalic. Pupils equally reactive to light; no history of glaucoma or cataracts. Ears are in normal alignment; no history of chronic infections, hearing loss, tinnitus, or discharge. Nose and sinus history includes clear nasal discharge “since last October”, and occasional nose bleeds; states she use to get nose bleeds often as a child. Mouth and throat are absent of lesions; no bleeding gums, sore throat, dysphagia, hoarseness, or altered taste. Neck is void of pain, swelling,

L.H. report no concurrent or severe headaches; There was no head trauma, syncope or vertigo. Patient wears corrective lens with no difficulty of vision or diplopia; absent of inflammation, discharge or lesion. Last eye exam was in September of 2016 with no history of glaucoma, cataracts. L.H. denies having any frequent colds, sinusitis, epistaxis and trauma. Patient reports having obstruction stating, “it happens when I am lying down” with an occasional postnasal drip.

Visual fields are full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation, and movement. Tongue and uvula are midline. Normal auditory acuity. Normal shoulder shrug.

Visual fields full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation and movement. Tongue and uvula were midline. Normal auditory acuity. Shoulder shrug is normal.

Visual fields full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation and movement. Tongue and uvula are midline. Normal auditory acuity. Normal shoulder shrug.

Hello, Im Dr. Flores. I'm sorry but we believe that your child may be at risk to having Tay-Sachs Disease also known as GM2 gangliosidosis. She does not roll over like most babies, a little weak, and exaggerated responses to sudden noises, and both of you are of eastern and central European Jewish heritage which puts you at a higher risk to having Tay-Sachs. We’re gonna run a few test to confirm if your daughter has it…We’ve received the results back from the lab and i'm sorry to say but you're daughter has Tay-Sachs disease, Some of our test consisted of testing responses to sudden noises and checking for red spots at the back of the eyes. Which your child presented with as you can see in this image.Also blood tests to check if the body is producing the Hexosaminidase-A enzyme or Hex-A for short.

Heart: Rhythm regular, no murmurs. Normal S1 and S2. No S3, S4 or murmurs. No peripheral edema, cyanosis or pallor. Extremities are warm and well perfused. No carotid bruits.

They may develop alone or in combination, but as the disease progresses, all are usually present. There is no true paralysis. The symptoms are always bilateral but usually involve one side early in the illness. Because the onset is insidious, the beginning of symptoms is difficult to document. Early in the disease, reflex status, sensory status, and mental status usually are normal. Postural abnormalities (flexed, forward leaning), difficulty walking, and weakness develop. Speech may be slurred. Autonomic-neuroendocrine symptoms include inappropriate diaphoresis, orthostatic hypotension, drooling, gastric retention, constipation, and urinary retention. Depression is also prevalent.

This is an up dated review of the disease, manifestations, and potential treatment options available.

Visual fields full to confrontation. Extraocular muscles intact. PERRLADC. Normal facial symmetry, sensation, and movement. Tongue and uvula were midline. Decreased auditory acuity bilaterally. Normal shoulder shrug.

What patients experience due to this disease are a range of physical and cognitive problems. According to Bonafede (2013), these symptoms may include difficulty with balance, muscle coordination, memory, concentration, vision and speech. Moreover, they may “come and go or become progressively worse,” which will end up hindering the person’s abilities and productivity. Until recently, the major course of therapy only included the use of steroids, due to their immunosuppressive qualities; however, now “several new compounds have been developed and approved,” in hopes to change the course of the disease (Tavazzi, 2014, 833). Current available treatments include steroids and Glatiramer acetate, Natalizumab, and Fingolimod. The first, suppresses the immune system to reduce the inflammatory response, thus avoiding the immune cells from entering the central nervous system. However, long-term use of steroids puts the patient at risk for infection or hypertension; so, during the use of these drugs one must make into account if the benefits outweigh the risk. The latter, is a “synthetic amino acid polymer resembling myelin basic protein,” delivered via injection (Tavazzi, 2014, 833). To be more specific, it is thought to set the immune system so as not to attack the myelin, so as to reduce its scarring and damage to the CNS. It has been shown to be safe and well-tolerated. Some

Which are coma, feeding difficulties, lethargy, seizures, vomiting, and urine that smells like maple syrup. In the urine, there will be signs of ketones. Ketones are the substances your body breaks down for energy. So, if it’s in your urine that means that your body is not getting energy from it. There will also be an excess acid in the blood. There are few treatments to this disease. Treatments involve eating a protein free diet, fluids and sugars can also be given through an IV. You also might need dialysis through your belly and veins to clear out any abnormalities in your blood. With this disease, you will need to constantly be on a very special diet. For infants, they need to be fed formula with low levels of leucine, isoleucine, and valine. While adults should avoid foods with leucine, isoleucine, and valine. The reason why dieting does help lessen the symptoms is that if you do not eat food with the affected amino acids then your body would not have the buildup of BCAAs and other substances which will cause health problems. If you do not follow the diet and take precautions it can cause neurological damage. Even if you diet like you are supposed to you are still susceptible to get the symptoms because high amount of stress and certain illnesses can cause high amount of amino acids in your body which your body will not be able to break down. This can cause

Since this condition may have devastating complications and can affect quality of life, it is important to become educated about its symptoms, diagnosis, and treatment.

The common complaints and signs/symptoms the patient presented with are unexplained weight gain, foggy thinking, depression, sleep disturbance, hair loss, constipation, and fatigue.

Other unusual complications include Guillain Barr’e Syndrome ,encephalitis, aseptic meningitis, transverse myelitis, cranial and peripheral nerve palsies6 .