Shira is a nine- months baby girl weights 7.5 kg. She is a product of healthy non-consanguineous parents. Normal prenatal history.
She had hypertonicity and irritability from the first days of life. By the age of 3 months she developed generalized hypertonicity due to rigidity and dystonia, rest tremor that worsens with crying, bradymimia with oromandibular and- lingual dyskinesia, drooling and diaphoresis.
She is very alert, communicative, but her movement activity is significantly limited due to generalized rigidity and dystonia.
Evaluation including brain MRI, blood lactate, amino acids, urine organic acids was normal. She had transient elevation of CPK .
CSF studies revealed normal glucose, lactic acid, Biopterin 58, Neopterin 16.
CSF neurotransmitters: HVA-3523 (295-932), 5HIAA 632 (114-336), HVA/5HIAA RATIO -6.8 (1.5-3.5)
Urine HVA: HVA-109.33 mg/gr (5-19), creatinine 15 mg/dl (90-300)
Since the extremely high hva values fits nothing we are looking for a differential diagnosis.
Thanks for your help in advance...
Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.
Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.
Homovanillic acid (HVA) is a byproduct of dopamine. By measuring its levels in the CSF, it provides some idea of how dopamine is being metabolized/used. For example, a deficiency of dopamine beta hydroxylase will cause an elevation of HVA. Disorders of enzymatic copper incorporation (such as Menke’s) is also associated with elevation of HVA. Different psychiatric disorders and liver disorders have also been implicated to have abnormalities of HVA levels. (These are just a few of the causes).
I highly suggest you have your daughter follow up with a pediatric neurologist.
Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. Med Help International, Inc. is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.