History and Physical — Patient 12
Present Illness: A 7-week old male was referred to Texas Children's Hospital by his pediatrician for evaluation of an increasing head circumference. At birth, the child's FOC was 37 cm (>95% for age), and in the interim, the head had grown by two centimeters. A head CT from a week prior to referral suggested "early hydrocephalus". Nevertheless, the child did not exhibit altered consciousness, vomiting, or seizures.
Birth History: The child was delivered vaginally at fullterm without complications to a 22 year old; the birth weight was 7 pounds and 14 ounces. This was the mother's first pregnancy. She had regular prenatal care and the pregnancy was unremarkable. The child went home with mother 24 hours following delivery.
Developmental History: The mother relates that the child smiles, turns to voices, fixes on and follows objects. He has difficulty, however, lifting his head.
Family History: There is no maternal family history of large head size, nor is there a history of genetic, or neurodegenerative diseases. The child is the product of a brief sexual encounter, and the paternal medical and family histories are unknown. No evidence of consanguinity exists. The mother's family is of northern European origin.
Diet: The child's mother believes he eats well and has a good suck. She notes, however, that it often takes the child approximately 30-40 minutes to finish a bottle.
Vital Signs: Afebrile, vitals stable. Height 55.5 cm (50% for age), and weight 5.2 kg (50% for age).
HEENT: Frontal-occipital circumference (FOC) 44 cm (>95% for age). The head was large in comparison to the body. The face was symmetric. The anterior fontanel was tense (7 cm by 6 cm) and nonpulsatile with split sutures, including a prominent split metopic suture. No cranial bruit was heard.
Skin: The skin did not have any areas of hyper/hypopigmentation. The remainder of the general exam was normal.
Mental Status: The child was awake but quiet, with little spontaneous movement of the extremities. The child did not smile.
Cranial Nerves: Pupils were 3 mm bilaterally and reactive; the gaze was conjugate. He fixed on objects but did not follow well or past midline. Fundoscopic exam did not reveal any papilledema, hemorrhages, or "cherry red" spots. Opticokinetic nystagmus could not be elicited in either the horizontal or vertical planes. No "setting sun" sign was seen. The remainder of cranial nerves were intact.
Motor: Tone was increased in all four extremities, but the legs were slightly more spastic than the arms. The right leg was more spastic than the left. With the exception of poor head control, strength was normal.
Reflexes: Primitive reflexes, such as suck, root, and Moro, were poorly elicited. He did exhibit normal palmar and plantar grasp. The deep tendon reflexes were brisk throughout, with cross adductors bilaterally. Clonus was present at both ankles. The toes were bilaterally upgoing on plantar stimulation.