Tuberous Sclerosis

A 25-month old, former 36-week male with a mild speech delay presented to the ED for a 2 week history of “spasms.” His parents stated that he initially had right upper and lower extremity jerking movements once every few days. These episodes usually occurred while he was asleep and spontaneously resolved after 5-10 seconds. He did not seem bothered after these episodes. On a few occasions, they occurred while he was awake. During these times his eyes were open without any abnormal eye movements. He was awake, active and playful afterwards.

The parents were concerned because these spasms increased in frequency over the week, ultimately occurring once to twice daily. They called their primary physician and were referred to the ED. At the ED, he was afebrile with stable vital signs, and appeared awake, alert and interactive. He did not have any witnessed abnormal movements.

Laboratory work up including a CMP, CBC with differential, and blood culture were obtained. A noncontrast head CT was concerning for punctuate calcifications and the patient was referred to our service for further evaluation and management. The patient had a brief, self-resolving seizure overnight. An EEG was markedly abnormal, but the pattern was not consistent with hypsarrhythmia. An MRI of the brain was significant for parenchymal tubers without hydrocephalus or subependymal giant cell ependymomas. An ophthalmology exam under sedation was normal. A renal ultrasound was also normal. A hemodynamically stable rhabdomyosarcoma was noted on the echocardiogram.

A family meeting with the hospitalist service, neurology, genetics and social services allowed the multidisciplinary team to support the family and discuss the diagnosis of tuberous sclerosis. The patient was discharged home with a prescription for keppra and close follow-up with his primary physician, neurology, genetics and cardiology.

Nifedipine Ingestion

Under the category of interesting ingestions, a one year old boy found a pillbox in his mother’s purse and ingested her nifedipine XL. He was observed overnight and was cardiovascularly stable. A six year old girl found a watch battery on her grandmother’s dresser. She put the battery in her mouth and accidentally swallowed it. On presentation to the ER, the battery was already in the distal stomach or early duodenum. Close x-ray follow up indicated that the battery was moving through the GI tract without complications. Since it was not lodged anywhere, it was allowed to pass out in her stool.

Hereditary Spherocytosis

A full-term female baby was born to a mother known to have spherocytosis. The mother is of northern European descent and the father is of Italian heritage. The mother’s CBC was notable for microcytosis, while the father’s CBC was normocytic. Both parents had normal hemoglobin electrophoresis. The baby’s hemoglobin at birth was 17mg/dL. She was followed by her primary physician and was doing well until the tenth day of life, when a repeat hemoglobin was 6.3mg/dL. The baby was admitted for a blood transfusion. In order to prevent congestive heart failure from a rapid infusion of colloid, the PRBCs were administered in aliquots of 5 cc/kg over 4 hours. Four doses were given for a total of 20cc/kg, and her hemoglobin improved to 12 mg/dL. She was discharged home with close follow up with hematology service and her primary physician. The patient’s osmotic fragility test was positive for hereditary spherocytosis. The baby was readmitted 2 weeks later for another PRBC transfusion.

15-year old With Memory Loss

A 15-year old girl was in her usual state of health until 4 days prior to admission, when she was in a minor motor vehicle collision. She was a restrained passenger in the backseat and complained of neck pain immediately after the accident. She had no other complaints and did not lose consciousness. She appeared otherwise normal until the day of admission, when she passed out on the carpeted floor of a store. The store employees reported that she was unconscious for a few minutes and that when she regained consciousness, she could not recognize anyone in the store, including friends and family members. She could not remember anything prior to her waking up after her fall. She was unable to remember her name, recall any childhood memories, and was uncertain about the grade she was starting this fall. The witnesses denied seeing any jerking or abnormal eye movements and did not see her hit her head as she fell.

On exam, she exhibited memory loss on the mini-mental status exam, although her concentration was intact. She was anxious and distressed about her amnesia. She had no recent travel outside of the US. She recently returned from Los Angeles the week prior. There was no history of bug or tick bites. Her immunizations were up-to-date and she denies the use of herbal medications or illicit drugs. A head CT, CBC, chemistry panel, UA, urine toxicology screen, and urine pregnancy test were all within normal limits. The EKG and EEG were also normal. The patient was admitted to the PICU for observation and further evaluation. She slept well through the night and awoke with her memory restored, except for the brief period of unconsciousness that followed the fall. She was discharged home in an improved state with close follow up with her primary physician and the pediatric neurologist.

Throbbing Eye Pain due to Severe Sinusitis

A 14-year old previously healthy male presented with a 3-day history of right eye pain. He had subjective fevers and a sore throat that developed after a long plane flight 1 week before. Three days prior to admission, he started having right eye tearing and erythema. He then developed throbbing eye pain. He was seen by his primary physician and was discharged home with a diagnosis of conjunctivitis. He returned to his PMD clinic and a rapid strep test, obtained due to a persistent sore throat, was positive so he was given a prescription for antibiotics. He was also noted to be photophobic with pain associated with extraoccular eye movements. He was urgently seen by an ophthalmologist, who then referred him to our service for possible orbital cellulitis.

On admission, he endorsed pain with eye movement, but denied vision problems, nasal discharge, coughing or headache. He did recall a severe headache the week prior. He had no nausea or vomiting. A contrast CT scan to evaluate the orbits revealed no orbital cellulitis, but severe sinusitis with right sided frontal, maxillary, sphenoid and ethmoid involvement. Otolaryngology was consulted and he was started on Afrin nasal sprays every 4 hours and normal saline washes every 4 hours to his right nasal passage. Per ENT recommendations, he was started on Zosyn, after which he developed hives. He was then switched to ceftriaxone and clindamycin without any adverse effect. He was discharged home in good condition with prescriptions for clindamycin and cefuroxime and with close follow-up with his primary physician and otolaryngology.

Distended Abdomen Leads to Teratoma Diagnosis

A 2-month old former 37-week female infant was seen at her primary physician’s office on a Friday afternoon for a distended abdomen. The child had been breastfeeding regularly, sleeping well, with normal urine output and normal, formed bowel movements. She had not had any fevers, temperature instability, vomiting, diarrhea or respiratory problems. An outpatient abdominal ultrasound revealed a calcified mass in the right upper quadrant. She was scheduled for a pediatric surgery consultation the following Monday as she was clinically stable. She subsequently had a contrast CT scan which indicated a probable teratoma. The mass was resected the following day, and was consistent with the preoperative diagnosis of a teratoma. The patient did well postoperatively and was discharged home with close follow up with her pediatrician, oncology, and the pediatric surgery team.

Milk-Related Iron Deficiency Anemia

Two similar cases presented with milk-related iron deficiency anemia. Both children were 2 years old and consumed 20 oz or more of cow’s milk daily, and were otherwise described as picky eaters. Both patients presented with a severe microcytic anemia, with hemoglobin levels of 4mg/dL. They tolerated their slow PRBC transfusions in small aliquots and were discharged home with instructions for dietary modifications and close follow up with their pediatricians and the pediatric hematologist.

Anaphylaxis to Oatmeal

A 6-month old previously healthy male presented with anaphylaxis to oatmeal. According to his mother, the patient had been in his usual state of health until just prior to admission, when he started crying and had lip swelling after eating oatmeal. He presented to OB triage with stridor and lip swelling. He was seen and sent immediately to the Pediatric Unit where he received subcutaneous epinephrine, benadryl and prednisolone. The parents reported that the baby had eaten oatmeal several times previously without difficulty. However, they did recall that his grandmother once noted that the child seemed itchy after eating it. He recovered uneventfully and was discharged home with an epinephrine pen and close follow-up with his primary physician.

Imperforate Anus

A 5-week old full-term female infant presented to her primary care clinic due to the parents’ concern of stooling from the vagina. According to the parents, the baby had been in good health, breastfeeding every 2-3 hours since birth. She was stooling regularly, but the parents noted the stool appeared to come from her vagina. She had no other symptoms and was afebrile with appropriate weight gain. On exam, the pediatrician noted an imperforate anus and an apparent rectovaginal fistula. She was referred to CPMC for the first stage of her imperforate anus repair. She was discharged home with good ostomy output and plans for the next stage in 2-3 months. She had scheduled follow up with her pediatrician and the pediatric surgery service.