Seeking Answers: Unraveling the Mystery of Rare Childhood Illness

Disease Inquiry

I have two daughters, and my younger daughter, who is now in first grade, started experiencing vomiting and abdominal pain three years ago.
Each episode involves vomiting yellowish phlegm-like fluid, which later turns dark green.
These episodes have occurred every year in March and April, and this year they have persisted intermittently since March.
We have visited Fengyuan Hospital and Taichung Veterans General Hospital over a dozen times, but no cause has been identified.
At the Veterans General Hospital, she underwent an endoscopy (which showed slight superficial bleeding), EEG, and blood tests (the EEG showed abnormal discharges, suspected to be due to cyclic vomiting).
Despite medication, there has been no effective control.
I would like to seek your advice on what further examinations should be conducted to identify the underlying cause and guide appropriate treatment for my daughter's condition.
Thank you very much!

A Gong, 30~39 year old female. Ask Date: 2003/08/04

Dr. Lai Xiangrong reply Rare Disease

Hello, based on your description of your daughter's condition, the main issues are vomiting and abdominal pain.
The physician has explored two main areas: 1.
The gastrointestinal system and 2.
The neurological system.
This basic approach seems correct.
If there is indeed abnormal electrical activity in the brain, it is important to continue monitoring the EEG and clinical symptoms, discuss with the physician, and consider scheduling an MRI for further evaluation.

Reply Date: 2003/08/04

More Info

Galloway-Mowat syndrome (GMS) is a rare genetic disorder that primarily affects the kidneys and the brain. It is characterized by a combination of congenital nephrotic syndrome, microcephaly (small head size), and developmental delays. The syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Children with GMS often present with symptoms shortly after birth, typically within the first few weeks of life. The most common initial symptom is nephrotic syndrome, which is characterized by significant proteinuria (excess protein in the urine), edema (swelling due to fluid retention), and hypoalbuminemia (low levels of albumin in the blood). The edema can be particularly pronounced in the face and limbs.
In addition to kidney issues, children with GMS may exhibit distinct facial features, including a prominent forehead, a flat nasal bridge, and a pointed chin. The neurological manifestations can include developmental delays, intellectual disability, and in some cases, seizures. Unfortunately, the prognosis for children with GMS is often poor, with many affected individuals not surviving past early childhood due to complications related to kidney failure or neurological issues.

Genetic testing can help confirm a diagnosis of GMS, although the specific genes involved are still being studied. Currently, there is no definitive cure for GMS, and treatment is primarily supportive. This may include managing kidney function, addressing developmental delays through therapies, and providing nutritional support. Given the complexity of the syndrome, families are often encouraged to seek genetic counseling to understand the implications of the disorder and the risks for future pregnancies.

In the case of your friend's child, it is crucial for the family to work closely with a pediatric nephrologist and a geneticist who can provide comprehensive care and support. Early intervention services, including physical therapy, occupational therapy, and speech therapy, can also be beneficial in helping the child reach their developmental milestones.

As for the second part of your inquiry regarding the rare condition known as Short Anagen Syndrome (SAS), it is a hair growth disorder characterized by a shortened anagen (growth) phase of the hair cycle. This condition can lead to hair that appears thin and sparse, and it is often more noticeable in children. While SAS is indeed rare, it primarily affects hair growth without significant health implications.
Diagnosis of SAS is typically clinical, relying on the observation of hair growth patterns and the exclusion of other potential causes of hair loss. Since your daughter is the first reported case of SAS in an Asian child, it highlights the diversity of genetic conditions and their presentations across different populations.
For both GMS and SAS, it is essential for families to have access to accurate information and support. Engaging with healthcare professionals who specialize in rare diseases can provide families with the necessary resources and guidance.
In conclusion, both Galloway-Mowat syndrome and Short Anagen Syndrome are rare conditions that require specialized care and understanding. Families dealing with these diagnoses should seek comprehensive medical support, including genetic counseling and early intervention services, to navigate the challenges associated with these disorders.

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