Elevated skull pressure leads to vision loss in Alagille: Case study
Optic nerve damage can cause permanent blindness without prompt treatment
A young woman with Alagille syndrome (AGLS) developed profound vision loss due to increased pressure inside the skull following multiple brain bleeds, according to a case study from the U.S.
Such elevated intracranial, or within-the-skull, pressure can cause swelling and damage the optic nerves, which carry visual information from the eye to the brain. It can result in rapidly worsening vision and, in some cases, permanent blindness if not treated promptly.
Early and aggressive intervention, therefore, is crucial to prevent irreversible damage in these patients, the researchers noted.
“This case highlights that patients with ALGS may have risk factors for [eye-related disease] and should have annual ophthalmologic examinations … to evaluate for potential papilledema,” or swelling of the optic nerves, the researchers wrote.
The case report, “Profound vision loss secondary to malignant intracranial hypertension following a multifocal intracranial hemorrhage in an adult with Alagille Syndrome,” was published as a correspondence in the Canadian Journal of Ophthalmology.
Woman sought emergency treatment for headaches, vision problems
A genetic condition, Alagille syndrome is caused by mutations in the JAG1 or NOTCH2 genes, which code for proteins essential to the development of body structures during embryonic growth. These mutations disrupt normal development and result in a wide range of symptoms.
One of the most common features of the disease is the presence of fewer than normal bile ducts, which are the tubes that carry the digestive fluid bile from the liver to the intestines. In addition to the liver, the heart, eyes, skeleton, and kidneys can also be affected.
“Patients with ALGS may also have vascular [blood vessel] anomalies,” the researchers wrote, adding that “spontaneous intracranial hemorrhages [bleeding] are a leading cause of mortality — possibly more common in females.”
In this case, a team of researchers in the U.S. described a 25-year-old woman with Alagille syndrome who came to the emergency department due to altered mental status, headaches, and vision problems.
She had several other health conditions often seen in people with Alagille, including chronic liver disease, heart abnormalities, narrowed arteries that carry blood from the heart to the lungs, and kidney failure.
Her medical history showed a previous diagnosis of idiopathic intracranial hypertension (IIH), a condition marked by high pressure in the brain and without a known cause. However, her case had been lost to follow-up.
The woman was found to have high blood pressure and irregular heart rhythms. Brain scans revealed widespread brain swelling due to excess fluid accumulation and multiple areas of bleeding.
Surgery installs shunt to relieve pressure in skull
Further tests showed slightly weakened eyesight and posterior embryotoxon, a common Alagille feature marked by a white ring lining the thin, transparent membrane that covers the eyeballs. At the back of this patient’s eyes, doctors noted mild swelling of the optic nerves, along with bleeding areas.
A spinal tap, a procedure that involves using a needle in the lower back to collect a small amount of cerebrospinal fluid (CSF), the liquid surrounding the brain and spinal cord, revealed a very high pressure at the opening.
Due to the brain bleeds, surgery was not recommended. Instead, doctors started the woman on a kidney-safe dose of acetazolamide, a medication that can be used to lower intracranial pressure. Her other medical issues were managed, and she was discharged once stable.
She returned four days later “complaining of headache, worsened vision, and seemed ill-appearing,” the team wrote, adding that eye exams confirmed reduced eyesight and showed papilledema on her eyes, as well as bleeding.
“At high risk for vision loss, she was sent to the emergency department for direct hospital admission,” the researchers wrote.
This case … stresses the importance of not only multidisciplinary care, but the critical importance of ophthalmology involvement in immediate complex patients at risk for vision loss.
A second spinal tap showed increased CSF opening pressure. She was diagnosed with malignant intracranial hypertension, likely due to brain bleeding.
“Patients with ALGS are known to have ocular findings; however, papilledema and IIH have only rarely been reported in ALGS, less so identified as a precipitating factor of vision loss,” the researchers wrote.
Because of her simultaneous health conditions, treatment options were limited. Ultimately, doctors performed surgery to place a shunt — a tube to drain excess CSF fluid from the brain to her chest cavity — to relieve pressure.
Two months later, she had no symptoms, her vision improved significantly, and papilledema and eye bleeding had fully resolved.
“This case is important for several reasons. First, it stresses the importance of not only multidisciplinary care, but the critical importance of ophthalmology involvement in immediate complex patients at risk for vision loss,” the researchers wrote. “It also highlights the importance of aggressive treatment (including surgical interventions) for patients with vision loss from elevated intracranial pressure, even in the setting of medically complex issues, to prevent permanent blindness.”
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