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A rare presentation of Hurler syndrome in adulthood with hyperprolactinemia and Pituitary hyperplasia: A Case report

This case report describes a rare adult-onset presentation of Hurler syndrome in a 27-year-old woman characterized by hyperprolactinemia, pituitary hyperplasia, and severe pulmonary hypertension, highlighting the diagnostic challenges in resource-limited settings and the importance of clinical recognition for managing multisystemic lysosomal storage disorders.

Original authors: Muhammad Moin Ud Din Arshad, Haram Fatima, Areena Fatima, Muhammad Bilal Akram, Rubab Darwesh, Muhammad Abdullah Masood, Chandra Kishor Yadav

Published 2026-07-21

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CC BY 4.0

Original authors: Muhammad Moin Ud Din Arshad, Haram Fatima, Areena Fatima, Muhammad Bilal Akram, Rubab Darwesh, Muhammad Abdullah Masood, Chandra Kishor Yadav

Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). ✨ This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer

Imagine your body as a bustling city where garbage trucks constantly patrol the streets, picking up trash to keep everything clean and running smoothly. In this city, the "trash" is made of sticky, sugary molecules called glycosaminoglycans (GAGs). Normally, a specific enzyme acts as the garbage truck driver, breaking these molecules down so they can be hauled away. But in a rare condition called Hurler syndrome, the driver is missing. Without that driver, the sticky trash piles up inside the cells, clogging the pipes, swelling the buildings, and eventually causing the whole city to malfunction. This is a genetic disorder known as a lysosomal storage disease, and while it usually shows up in babies with severe symptoms, it's a mystery when it hides until adulthood. Doctors care deeply about finding these late-blooming cases because if they can spot the clogged pipes early, they might be able to clear the debris and save the city before it's too late.

Now, picture a 27-year-old woman walking into a hospital, feeling like her body is slowly turning into a heavy, swollen sponge. She couldn't walk more than a few steps without gasping for air, her head ached, and her whole body felt puffy. When the doctors examined her, they found a collection of strange clues: her face was coarse and broad, her hands looked like spades, her spine was bent, and her liver and spleen were massive. It was like her body was trying to tell a story it couldn't speak. The X-rays revealed a skeleton that looked like it had been squished and reshaped, with bones that were bullet-shaped and vertebrae that looked like they had little beaks on them. Inside her chest, the blood vessels were under immense pressure, and a scan of her brain showed her pituitary gland—a tiny master control switch—had swollen up, causing a hormone called prolactin to spike to 33.8 ng/mL.

This paper tells the story of how the doctors pieced together this puzzle. They couldn't run the fancy genetic tests to confirm the missing garbage truck driver because those tools weren't available in their region. Instead, they acted like detectives using only the clues in front of them. They saw the unique bone shapes, the massive organ swelling, and the specific lung issues, and they realized this was a rare, adult-onset case of Hurler syndrome. What made this case truly special and new to the medical world was the combination of severe lung pressure and that swollen pituitary gland; the authors suggest this is the first time this specific combination of pulmonary hypertension and hyperprolactinemia has been reported together in an adult with this disease.

The doctors didn't have access to the miracle cures like enzyme replacement therapy or stem cell transplants that can fix the root cause. Instead, they treated the symptoms. They gave her medicine to calm down the pituitary gland and drugs to relax the tight blood vessels in her lungs. The result? The patient felt better. She could breathe easier, and her symptoms improved. This case report suggests that even without the high-tech lab tests, doctors can still solve these medical mysteries by paying close attention to the body's unique patterns. It's a reminder that in the vast, sometimes under-resourced corners of the world, a sharp eye and a curious mind can still find the answers, offering hope and relief to patients who might otherwise be left in the dark.

Technical Summary: A Rare Presentation of Hurler Syndrome in Adulthood with Hyperprolactinemia and Pituitary Hyperplasia

Problem Statement
Hurler syndrome (Mucopolysaccharidosis type I, or MPS I) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme $\alpha$ -L-iduronidase (IDUA). This deficiency leads to the accumulation of glycosaminoglycans (GAGs), specifically dermatan sulfate and heparan sulfate, resulting in progressive multisystem dysfunction. While the severe form typically presents in infancy with rapid deterioration and early mortality, adult-onset presentations are increasingly recognized but remain diagnostically challenging, particularly in resource-limited settings where genetic and enzymatic testing are unavailable. Furthermore, while endocrine abnormalities such as short stature and hypothyroidism are documented in MPS I, hyperprolactinemia and pituitary hyperplasia are exceedingly rare and have not been previously described in combination with severe pulmonary hypertension in an adult Hurler syndrome patient.

Methodology
This study presents a single case report of a 27-year-old female patient admitted with generalized swelling, progressive shortness of breath, and headaches. The diagnostic approach relied heavily on clinical pattern recognition and radiological imaging due to the unavailability of enzyme assays (specifically for $\alpha$ -L-iduronidase) and genetic testing.

Clinical Evaluation: The patient underwent a comprehensive physical examination assessing for coarse facial features, skeletal deformities, organomegaly, and cognitive status.
Laboratory Analysis: Hematological profiles, peripheral blood smears, and urine analysis (specifically the albumin-to-creatinine ratio) were conducted.
Imaging: High-resolution computed tomography (HRCT) of the chest, MRI of the brain, and echocardiography were performed. Skeletal surveys included X-rays of the hands and spine.
Treatment and Follow-up: The patient was managed with bromocriptine for hyperprolactinemia, pulmonary vasodilators (Benprost and Bosmon) for pulmonary hypertension, and supportive care. She was monitored for symptomatic improvement over an 8-day hospitalization.

Key Results
The patient presented with a constellation of symptoms and findings consistent with advanced MPS I, despite the late age of diagnosis:

Clinical Phenotype: The patient exhibited coarse facial features (prognathism, facial puffiness), short stature, spade-like hands, joint stiffness, kyphosis, massive hepatosplenomegaly, and mild cognitive impairment.
Radiological Findings:
- Skeletal: X-rays revealed dysostosis multiplex, characterized by bullet-shaped metacarpals, thickened and shortened phalanges, beaked vertebral bodies, flattened ovoid vertebrae, increased interpedicular distance, flared iliac wings, and poorly formed acetabula.
- Pulmonary: HRCT showed interstitial lung disease with ground-glass opacities, septal thickening, fibrotic bands, traction bronchiectasis, and a thin-walled cyst. The pulmonary trunk was dilated (4.0 cm).
- Endocrine/Neurological: MRI demonstrated pituitary hyperplasia with an 11 mm enlargement and homogenous enhancement.
- Cardiac: Echocardiography confirmed severe pulmonary hypertension (estimated right ventricular systolic pressure of 75 mmHg), severe tricuspid regurgitation, and right heart dilation with preserved left ventricular function.
Laboratory Findings: Significant hyperprolactinemia was recorded (33.8 ng/mL). Hematology revealed microcytic anemia, thrombocytopenia, lymphopenia, and reticulocytosis. Urinalysis indicated severe proteinuria (albumin-to-creatinine ratio of 7357.35 mg/g).
Clinical Outcome: Following treatment with bromocriptine and pulmonary vasodilators, the patient experienced symptomatic improvement and was discharged.

Key Contributions

Novel Clinical Association: This report documents the first known combination of Hurler syndrome presenting with both severe pulmonary hypertension and hyperprolactinemia secondary to pituitary hyperplasia in an adult.
Diagnostic Paradigm in Resource-Limited Settings: The case illustrates the critical role of clinical judgment and radiological pattern recognition (specifically dysostosis multiplex and specific organ involvement) in diagnosing MPS I when definitive enzymatic or genetic confirmation is inaccessible.
Expansion of Disease Spectrum: The findings expand the known clinical spectrum of adult-onset MPS I to include significant endocrine disturbances (pituitary hyperplasia) and severe pulmonary vascular complications.

Significance and Claims
The authors claim that this case is significant for several reasons:

Late-Onset Presentation: It highlights that untreated or undiagnosed MPS I can present in adulthood, challenging the assumption that severe forms are exclusively pediatric.
Diagnostic Utility: It underscores that in the absence of advanced diagnostic tools, clinicians can effectively diagnose rare genetic disorders through careful observation of multisystem patterns, including skeletal dysplasia, organomegaly, and specific imaging markers.
Therapeutic Implications: The case demonstrates that even without access to definitive therapies like enzyme replacement therapy (ERT) or hematopoietic stem cell transplantation (HSCT), targeted symptomatic management (e.g., treating pulmonary hypertension and hyperprolactinemia) can yield clinical improvement and enhance quality of life.
Call to Action: The authors emphasize the need for expanded access to diagnostic tools, universal newborn screening, and greater awareness of atypical disease presentations to facilitate earlier identification and intervention.

The paper concludes that maintaining a high index of suspicion for lysosomal storage disorders in patients with unexplained multisystem disease is essential, particularly in under-resourced environments where definitive testing is delayed or unavailable.

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