Rare Flower

A 25 year old G1P0 woman is followed by maternal-fetal-medicine because her fetus has severe intrauterine growth restriction. The patient is otherwise healthy but her family history is unknown because she was adopted. A healthy baby is born vaginally with no peripartum medical problems. The baby has very little adipose tissue giving her a wasted look.

Over the first year of life, the baby comes to the pediatrician's attention because of small stature and microcephaly. She otherwise has preserved body proportions. Growth hormone is normal. The child has malar hypoplasia, nasal prominence, a small mandible, protuberant ears, and no upper lateral incisors. She has several admissions to the hospital for recurrent vomiting and diarrhea leading to dehydration.

Over the second year of life, the family notices that she is quite sun-sensitive. In fact, she develops the characteristic rash of lupus, but a pediatric rhematologist rules that diagnosis out. She gets rashes on sun-exposed areas like the dorsum of the hands. She develops well-demarcated patches of hypopigmentation as well as cafe-au-lait spots, mostly on the trunk.

Her childhood years are characterized by gastroesophageal reflux disease, recurrent sinus infections, recurrent otitis media, and pneumonia. She has normal antibody responses to vaccines.

By age 10, she has a diagnosis of non-Hodgkin's lymphoma. By age 15, she has a second cancer diagnosis of leukemia. Her intelligence is slightly below average, but not remarkably so. She has impaired glucose tolerance. Later in life, she develops colon cancer, diabetes, and premature menopause.

Challenge: What is this autosomal recessive disorder?

From the East Coast to the West Coast

This patient actually had no pulmonary symptoms. These findings were incidentally discovered during a workup for shoulder pain. The pain radiates up the head and neck and down the medial scapula. The patient had seen multiple physicians who diagnosed her with cervical osteoarthritis and shoulder bursitis, but she never got relief with treatment. Ultimately, a chest X ray was performed which led to the CT above.

Challenge: What is the diagnosis?

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Spongy

An infant of Ashkenazi Jewish descent presents at 3 months with lethargy, listlessness, weak cry, poor head control, and hypotonia. He doesn't move his extremities very much. His general pediatrician isn't sure what is going on, and the infant is simply observed. At 5 months, it's clear he has macrocephaly, and at 6 months, he develops spasticity, hyperreflexia, extensor plantar responses, and tonic extensor spasms. By the time he reaches your clinic, he's developed blindness and seizures. The pediatric ophthalmologist diagnoses optic atrophy. His CSF is normal. A T2-weighted MRI is shown below:

Challenge: What's your diagnosis?

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New Zealand

I recently traveled to New Zealand. I had a fabulous time and fortunately, did not look up unique geographic diseases until afterwards.

A 20 year old man does a "farm stay" while backpacking around New Zealand. He has a great time, white water rafting, swimming in lakes, camping in the woods, and hitchhiking. He presents with abrupt onset of fever, rigors, myalgias, and headaches. Review of systems is also positive for nausea, vomiting, diarrhea, and cough.

Routine laboratory tests are nonspecific. He has a left shift, thrombocytopenia, and hyponatremia. Urinalysis shows proteinuria, pyuria, and granular casts.

Challenge: What's your suspicion?

First image is in the public domain, from Wikipedia; second image is shown under Fair Use.

Camping

Sorry about the lack of cases this week! I haven't had consistent internet access. I've been doing some hiking and backpacking across South New Zealand. In doing so, we see a lot of warning signs about this disease:

A 30 year old camper is on a multi-day trek in the woods. After coming out, he goes to the emergency department complaining of headache, malaise, nausea, and dizziness. He is a little bit confused. His lips and skin are a bit flushed. Even after he recovers, he has variable degrees of cognitive deficits, personality changes, and movement disorders. His basic vital signs are normal, but you make the diagnosis based on a blood test.

Challenge: What's the diagnosis?

Image is in the public domain, from Wikipedia.

Time Off

Hello,

I'm traveling internationally for the next two weeks, so I'm going to take this week off from cases, and next week might be a little spotty. I'll try to have them ready, but we'll see. Thank you for following, and I really appreciate your support.

Craig