Is a child's laughter a disease? Be careful of this tumor!

Review expert: Yin Tielun, deputy chief physician of the Department of Neurology, Airport Branch, Peking University Third Hospital

Recently, it was reported that a 7-year-old girl laughed for no reason for a year and went to the hospital and was eventually diagnosed with hypothalamic hamartoma .

Source: News screenshot

Coincidentally, a 12-year-old girl was admitted to the hospital in 2017 and was also diagnosed with hypothalamic hamartoma. The main symptom was laughter, accompanied by urinary incontinence during the attack. In 2021, a child under 3 years old was also admitted to the hospital for surgery due to hypothalamic hamartoma.

What is a hamartoma?

Hamartoma refers to a tumor-like deformity caused by the incorrect combination and arrangement of normal tissues in an organ of the body during development .

According to relevant data, most scholars believe that hamartoma is an incorrect combination and arrangement of normal tissues within an organ. This change grows slowly and restrictively with the development of the human body. The incidence of hamartoma is low and it is often found in infancy or childhood.

Source: News Photo/Beijing Ditan Hospital

In other words, hamartoma is composed of abnormally grown mature tissues. Mainly during the embryonic period, normal tissues are incorrectly arranged together to form tumor-like tumors. This is a benign tumor disease. The main pathological components are fibrous tissue, cartilage, epithelial cells, muscles and blood vessels, etc., and it can occur in any part of our body.

Types of Hamartoma

The symptoms caused by hamartomas vary depending on the organ location in which they occur. They often occur in the lungs, kidneys, bile ducts, breasts, hypothalamus, etc.

If it occurs in the lungs, it manifests as pulmonary hamartoma , and the patient may experience symptoms such as cough, sputum, hemoptysis, chest pain, etc.; if it occurs in the kidneys, it is renal hamartoma , and the patient may experience symptoms such as low back pain, backache, and hematuria; if it occurs in the bile duct, it is a bile duct hamartoma , which may block the bile duct and cause obstructive jaundice, etc.

Hamartomas also often occur in the breast, forming breast hamartomas. Patients will have a mass in the breast with clear boundaries, smooth surface, and relatively hard texture. If it occurs in the hypothalamic area, it will form hypothalamic hamartomas.

Hepatic hamartoma is a rare benign liver tumor with a lack of specific clinical manifestations. Insufficient understanding of imaging leads to a high preoperative misdiagnosis rate. Although it is a benign tumor, it may transform into an undifferentiated embryonal sarcoma or angiosarcoma. This disease often has no characteristic clinical manifestations, and patients are mainly diagnosed due to progressive enlargement of the abdomen or palpation of an abdominal mass.

Hepatic mesenchymal hamartoma

Source: Cao Qiwei, Zhang Yazhou, Sun Qing. Analysis of clinical pathological characteristics of hepatic mesenchymal hamartoma[J]. Journal of Diagnostic Pathology. 2022, 29(06).

Hypothalamic hamartoma is a congenital, non-progressive (non-progressive: does not become severe over time, the condition is stable) tumor-like mass. It is ectopic neural tissue occurring in the lower hypothalamus or gray tubercle area. The main symptoms are precocious puberty, epilepsy, etc.

At present, there is no consensus on the pathogenesis of hypothalamic hamartoma. Relevant studies have shown that it may be a disease caused by incomplete closure of the neural tube in the midline, which often occurs at the end of the first month of pregnancy.

There are two main types of hypothalamic hamartomas: pedunculated parahypothalamic lesions and sessile intrahypothalamic lesions. Pedunculated types are primarily associated with pituitary axis dysfunction, particularly central precocious puberty. In contrast, sessile intrahypothalamic lesions are associated with neurological symptoms, including epilepsy, cognitive impairment, and psychiatric disorders.

Diagnosis and treatment of hamartoma

Because the development process, clinical and histological manifestations of hamartomas are similar to those of malignant tumors, inaccurate medical judgments are sometimes unavoidable.

Generally speaking, hamartoma is not a malignant tumor , but it needs to be checked regularly according to symptoms. If symptoms appear or there is a tendency to gradually increase, surgical treatment should be considered. However, if there is no obvious change, regular follow-up can be continued without special surgical treatment.

The causes of malignant tumors are varied and are affected by internal and external factors. There is no specific group of patients who are affected and it is difficult to completely cure once discovered. Hamartomas grow very slowly and increase in size as the body grows, but they stop growing when they reach a certain size and rarely become malignant.

However, due to the atypical clinical symptoms of some hamartomas, they are often misdiagnosed as lung malignancies and tuberculomas, and therefore active surgical treatment is still required.

Enhanced CT images of mesenchymal hamartoma in the neck of adults

Source: Xiang Wuchang, Yang Xiaorong. A case of mesenchymal hamartoma in the neck of an adult[J]. Modern Medical Imaging. 2021, 30(04).

Although hamartomas are rare and are usually found in infancy or childhood, they can occur in adults.

Therefore, no matter what stage of life you are in, you should pay attention to whether your body has any abnormal changes. If any abnormal changes occur or you feel obviously unwell, you should seek medical attention in time to avoid more serious consequences.