Mystery Cases

[Maria]

In2007, a girl was roaming a beach in British Columbia when she found a sneaker. To her horror, as she opened up the sock, she found that a human foot was inside. Since then, a number of severed feet have washed ashore. The feet have been connected to five men, one a woman, and three of unknown sex. Throughout the years, with a hoax foot thrown here and there, the case has never been completely closed, with many theories floating around as to who the feet belonged to.

The Vancouver police managed to identify one foot in 2008, matching its DNA to a man who was described as suicidal. They later were able to match two other feet to a woman who was also believed to have committed suicide. Because of these findings, many speculate that the feet belong to those who jumped off a bridge to their deaths. However, because of the rarity of only feet and no other body parts showing up, some believe that the feet were connected to a plane crash by a nearby island. Other suggest they were those of the victims of the Asian Tsunami in 2004, since the make of the shoes were all manufactured before 2004. Whatever sources these feet are coming from, they have left the world baffled for years.

Although this case has been solved, how it was solved remains a mystery. In 1977, a respiratory therapist in Chicago was murdered in her apartment. Teresita Basa was found under a flaming mattress, a butcher knife buried in her chest. Police attempted to track her stolen jewelry with no luck. They also failed in trying to link any of the suspects to the crime. It seemed impossible to find the perpetrator, that is, until Remy Chua, a co-worker who barely knew the victim, involuntarily became a leading source of information.

Usually people connect witches to Salem, MA, but for this particular case, the witches were in Springfield, New Jersey. It all started in 1972 when a dog brought home a decomposed forearm home. This prompted a police search and a body was soon found afterwards atop a cliff in Springfield. The body was identified to be that of Jeanette DePalmer, a 16-year-old who had gone missing for six weeks. Immediately, rumors began spreading as to the cause of her death. The hill where she was discovered was covered with occult symbols and many believed her body was placed on a makeshift altar. Many locals, even some police members, blame a coven of witches, otherwise known as Satanists, who used DePalma for a human sacrifice.

After continuing harassment towards the police, a year later Police Superintendent Yamamoto committed suicide by setting himself on fire, ashamed of his failure to capture the Fox-Eyed Man. Five days following the death, the Monster with 21 Faces sent its final letter to the media:

Retreating to their ship again, they decided to tow the Ourang Medan to port. But as soon as they attached the tow line, smoke began billowing out of the ship. Moments later it exploded, sinking into its watery grave, taking all its secrets along with it. What horrible thing did the crew witness? Some believe it was the work of the paranormal. Perhaps a band of ghost pirates raided the ship or aliens decided to drop in. Such unexplainable things do happen, as firefighter and EMT Mick Mayers have experienced in his firehouse. Others, however, have more scientific explanations.

This final unsolved case is not a famous case, but a local one that I remember from years ago, occurring in a neighboring town. If not for a brief mention of it in an old clip archive regarding a neighborhood watch, I might have thought it was just my imagination. Back in 2005, in the affluent town of Cape Elizabeth, Maine, the community experienced something unnerving. During the night, victims who kept their doors unlocked, would wake up in the morning to catch a brief glimpse of a man staring at them. Before they could react, the man would flee the scene, leaving the house just as it was before he entered it. Nothing was stolen. Nobody was injured or killed. All that he took was their privacy when he snuck into their bedrooms to watch them sleep.

While one patient may walk through your door with a classic clinical picture, leading to an easy diagnosis, another may present with signs and symptoms that have you phoning a friend. The mystery cases presented here can help to hone your diagnostic skills and prepare for even the most surprising retinal conditions.

An 11-year-old boy with a history of microcephaly and developmental delay was referred for retinal screening. His VA was 20/40 in each eye. Fundus examination and widefield fluorescein angiography (FA) demonstrated avascular peripheral retina and geographic chorioretinal atrophy in the inferior midperiphery of each eye (Figure 1). OCT showed well-preserved inner and outer retina laminations in the central macula, but the outer retina became attenuated leading up to the inferior area of atrophy (Figure 2).

Figure 1. Widefield imaging of the right (A) and left (B) eyes shows peripheral avascular retina, retinal dragging, and midperipheral chorioretinal atrophy. Widefield FA of the right (C) and left (D) eyes highlights peripheral avascular retina and the chorioretinal atrophy. There is no neovascularization.

Figure 2. Spectral-domain OCT of the right (A) and left (B) eyes shows that overall microanatomy of the macula is intact, except for the start of outer retinal attenuation approaching the area of atrophy inferiorly.

A 13-year-old boy presented with decreased vision in the left eye. VA was 20/20 OD and 20/200 OS. The fundus examination of the right eye was unremarkable, while the left eye showed an optic disc anomaly (Figure 3). FA showed hyperfluorescence around the disc and midperiphery corresponding to areas of chorioretinal atrophy. Retinal nonperfusion was also observed in the temporal periphery. OCT showed peripapillary serous subretinal fluid. Brain MRI and MRA did not show evidence of Moyamoya disease.

Figure 3. Fundus imaging shows an enlarged disc with radiating retinal vasculature (A). FA highlights the retinal vascular pattern, nonperfusion, and areas of chorioretinal atrophy (B). A magnified image helps depict the optic disc (C). Vertical OCT of the disc shows peripapillary subretinal fluid (D, yellow asterisks). Horizontal OCT shows a thin macula without foveal microanatomy (E).

Genetic testing in this patient revealed a heterozygous mutation in KIF11 (c.128_131dup), which was predicted to result in a frameshift and premature protein termination. The findings have been stable during subsequent follow-up visits.

Familial exudative vitreoretinopathy (FEVR) is a group of inherited retinal diseases characterized by abnormal retinal vascular development. Early stages are often asymptomatic and characterized by peripheral avascular retina and anomalous retinal vasculature. More advanced stages result in neovascularization, exudation, and tractional retinal detachment. FEVR is caused by genetic mutations in the Wnt signalizing pathway. The classic genes are NDP, FZD4, TSPAN12, and LRP5, but in recent years, researchers have identified additional genes implicated in FEVR-like syndromes.1,2

Clinicians are encouraged to identify the genetic etiology because there are different systemic consequences. For our patient described above, the KIF11 mutation causes a FEVR-like phenotype with microcephaly, developmental delay, and chorioretinal atrophy. It is a part of a syndrome called microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, or MCLID.1,2

Also known as morning glory syndrome, this congenital anomaly of the optic disc is characterized by an enlarged, funnel-shaped excavation of the optic disc (megalopapilla), glial tufts within the disc, and peripapillary chorioretinal pigmentary changes.3 An aberrant radial disposition of retinal vessels originating from the disc is also characteristic.

The diagnosis of MGDA is primarily made by the characteristic optic disc findings. Possible concomitant ophthalmic comorbidities include strabismus, retinal detachment (serous or rhegmatogenous), persistent fetal vasculature, cataract, aniridia, microphthalmos, peripheral retinal nonperfusion, and peripapillary choroidal neovascularization.4 MGDA is typically unilateral, but bilateral involvement is also reported. Visual prognosis is often limited with a VA ranging between 20/200 and counting fingers in the affected eye, although some eyes retain good vision.

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