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.
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