Brittle hair and seizures mask a potentially fatal syndrome in a pediatric patient

The case was reported in Puerto Rico.

Pictured: a. The hair on the scalp was short, sparse, dull, brittle, and lightly colored, with a frizzy appearance and uneven texture. B skin, doughy, loose, shiny appears on the back of the hands. Photo: case report. US National Library of Medicine.

Doctors and researchers in the country have reported the case of a healthy three-week-old baby who came to the emergency room with him seizures recurring of unknown etiology and with brittle hair.

According to the report, the patient had a history seizures Three weeks ago, he was referred for dermatological evaluation for sparse and brittle hair.

The patient’s mother brought her three-week-old newborn to the emergency department when she noticed he was making involuntary movements. In addition, newborns were also found to have poor oral intake and developmental delays.

The mother mentioned that the texture of her hair has changed since she was born. The physical examination revealed the presence of an infant with small jaw and

A depressed nose bridge, among other findings. His scalp hair was short, sparse, dull, brittle, light in color and had a wrinkled appearance and irregular texture with yellowish scales.

In addition, a neurological examination was notable for generalized hypotonia and normocytic anemia – associated with a variety of disorders – identified, according to data from the report.

Based on the results of studies, doctors suspected the diagnosis of Menkes disease (MD), a disorder that affects copper levels in the body. It is characterized by sparse and curly hair, growth retardation and progressive deterioration of the nervous system, which was confirmed in subsequent genetic tests between the infant and its mother.

Although there is no cure for this disease, the patient was treated with copper acid histidine to prevent neurological deterioration. Six months ago, significant hair growth was observed on the scalp and eyebrows. Moreover, it was reported that episodes seizures It declined and is still being monitored by a pediatric neurologist.

Other signs and symptoms may include decreased muscle tone (hypotonia), facial sagging, seizuresDelayed growth and intellectual disability. Children with Menkes syndrome usually begin to have very severe symptoms as children.

Menkes disease is caused by mutations in the ATP7A gene. Early treatment with copper can extend life expectancy slightly and prevent neurological damage in some cases.

Clinical manifestations usually begin during early childhood and include progressive neurodegeneration, connective tissue disorders, seizures intractable and brittle hair.

Children who develop MD tend to have gradual neurological deterioration and are more likely to die before the age of 3 years.

The case concluded that evaluation (which should include early identification of distinct hairs) is vital, highlighting the critical role dermatologists can play in formulating a rapid diagnosis.

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